Language：Japanese   Publisher：(一社)日本小児神経外科学会  

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Language：Japanese   Publisher：(一社)日本小児神経外科学会  

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Language：English   Publishing type：Research paper (scientific journal)  

INTRODUCTION: Immune-mediated colitis (IMC) is a common and potentially severe immune-related adverse event of immune checkpoint inhibitors (ICIs). Although corticosteroids and biologics are standard treatments, some cases remain refractory. Tofacitinib, a Janus kinase inhibitor, has shown promise in refractory IMC; however, evidence regarding its treatment effects remains limited. CASE PRESENTATION: Here, we present a case of pembrolizumab-induced IMC and duodenitis refractory to corticosteroids, infliximab, and vedolizumab. The patient was successfully treated after receiving a 30-day course of tofacitinib, which resulted in rapid symptom resolution and mucosal healing. No recurrence of colitis was observed 3 months after treatment cessation. CONCLUSION: As ICIs are increasingly used, the incidence of refractory IMC and other immune-related toxicities is expected to rise. This case highlights the need for further studies to establish the optimal use of tofacitinib in refractory IMC and duodenitis.

DOI： 10.1159/000547424

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Language：English   Publishing type：Research paper (scientific journal)  

Neuroendocrine carcinoma (NEC) of the colon and rectum is a rare malignancy with a poor prognosis that is characterized by distinct clinical and histopathological features that differ significantly from those of more prevalent adenocarcinomas. Poorly differentiated colorectal adenocarcinoma (PDC) is also rare and carries a poor prognosis. Considering the morphological similarities between these two rare, poorly differentiated cancers of the colon and rectum, it is plausible that certain cases of colorectal cancer (CRC) diagnosed as PDC may contain NEC as well. In the present study, cases of CRC that were diagnosed as PDC at our institution were investigated, searching for patients who exhibited NEC characteristics based on the expression of neuroendocrine markers (NEMs), including chromogranin A, synaptophysin and insulinoma-associated 1 (INSM1), and the loss of retinoblastoma 1 (Rb). Of 816 total CRC cases, 74 cases (9.1%) were identified as PDC. These were further divided into 13 (17.5%) cases that were positive for NEMs and others. Of these 13 cases, the expression rates for chromogranin A and synaptophysin were 69.2% each, while that of INSM1 was 100%. Upon re-examination of the 13 PDC cases, two cases were morphologically identified as NEC, including one large- and one small-cell NEC. A total of two cases showed loss of Rb in their PDC lesions. NEM positivity was considered an independent prognostic factor in the 74 PDC cases. Among these cases, some may exhibit characteristics of NEC. Unraveling the molecular mechanisms using CRC that harbors both PDC and NEC will be a task for future research.

DOI： 10.3892/mco.2024.2789

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Language：Japanese   Publishing type：Research paper (scientific journal)  

A 28-year-old male presented to his physician with a chief complaint of fever and cough. Contrastenhanced computed tomography revealed a 17×16×8 cm heterogeneous tumor in the anterior mediastinum, as well as right heart and inferior vena cava compression due to the tumor. He was referred to our hospital for close examination and treatment. Alpha fetoprotein (AFP) was 24,769 ng/ml, and percutaneous needle biopsy revealed a germ cell tumor with a York sac tumor component; therefore, Bleomycin, Etoposide and Cisplatin (BEP) therapy was started. Although AFP tended to decrease with BEP therapy, the tumor size remained unchanged, and right heart failure due to right heart system decompression led to cardiogenic shock. Consequently, veno-arterial extracorporeal membrane oxygenation (VA-ECMO) was introduced on Day 25. Since cardiogenic shock continued even after VA-ECMO, anterior mediastinal tumor resection was attempted on Day 30 following consultation with the respiratory surgery, cardiovascular surgery, cardiology, and intensive care units. Because the tumor was strongly adherent, tumor resection was abandoned, and tumor reduction surgery was performed. Postoperatively, his cardiovascular status improved quickly, and he was weaned off VA-ECMO the day after surgery. AFP decreased to 22 ng/ml but re-elevated; therefore, EP therapy was introduced on Day 97 when AFP was 600 ng/ml. We report a case of a primary mediastinal germ cell tumor with circulatory disturbance due to cardiopulmonary compression. In cases similar to ours, multidisciplinary treatment in collaboration with multiple departments is necessary.

DOI： 10.14989/ActaUrolJap_70_12_451

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Language：English   Publishing type：Research paper (scientific journal)  

Primary intracranial sarcoma (PIS) is a rare and aggressive pediatric brain tumor, which is partially associated with DICER1 mutant. Although the molecular genetic characteristics of this tumor have previously been investigated, novel therapeutic targets remain unclear. Further, the lack of faithful preclinical models has hampered the development of novel therapeutic strategies. Herein, we describe a pediatric case of PIS with DICER1 mutant and describe the development of the first novel patient-derived xenograft (PDX) model of this rare tumor. Somatic genomic profiling of the tumor revealed mutations in DICER1, TP53, and ATRX. Germline analysis further revealed a pathogenic variant of DICER1, significant for the diagnosis and management of hereditary tumor predisposition syndrome. Overall, we demonstrated that the PDX model faithfully retained the phenotype and genotype of the patient's tumor, as well as the DNA methylation profile. Through high-throughput drug screening using PDX tumor cells, we found that activation of the retinoic acid receptor (RAR) signaling pathway reduced tumor cell viability. These findings indicate that the RAR signaling pathway is a potential therapeutic target for PIS in DICER1 mutant.

DOI： 10.1007/s10014-024-00495-8

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Language：Japanese   Publisher：泌尿器科紀要刊行会  

症例1(17歳男性)。肉眼的血尿を主訴に、前医のCT検査にて右腎腫瘤が指摘され、精査加療目的で当科へ紹介となった。症例2(61歳女性)。当院でHBVフォロー中に撮影したCTで偶発的に右腎下極の腫瘤が認められ、当科へ紹介となった。両症例とも、画像所見から乳頭状腎細胞癌が疑われ、Robot-assisted partial nephrectomyが施行された。病理組織学的に後腎性腺腫と確定診断され、いずれも経過良好で術後8日目に退院となった。

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Other Link： https://search.jamas.or.jp/default/link?pub_year=2024&ichushi_jid=J01269&link_issn=&doc_id=20240903440004&doc_link_id=1390865409046350976&url=https%3A%2F%2Fcir.nii.ac.jp%2Fcrid%2F1390865409046350976&type=CiNii&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00003_2.gif

Language：Japanese   Publishing type：Research paper (scientific journal)  

Metanephric adenoma is an extremely rare disease. We describe two cases of metanephric adenoma. Case 1 : A 17-year-old male adolescent developed gross hematuria, and urinalysis revealed positive protein and occult blood. He was referred to our department for further evaluation and likely tumor removal. Contrast-enhanced computed tomography (CT) showed a neoplasm (23 mm) with poor contrast effect during the early as well as the late contrast phase. Case 2 : A 61-year-old woman presented with an incidentally detected tumor in the lower pole of the right kidney ; contrast-enhanced CT revealed a large neoplasm (10 mm) with poor contrast effect during the early as well as late contrast phase. Both patients underwent robot-assisted partial nephrectomy (RAPN) under the preoperative diagnosis of papillary renal cell carcinoma. Metanephric adenoma is histopathologically indistinguishable from papillary renal cell carcinoma preoperatively, and histopathology and immunostaining are neceaasry for accurate diasnosis.

DOI： 10.14989/ActaUrolJap_70_8_247

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：(公社)日本皮膚科学会  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：(一社)日本小児神経外科学会  

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Language：Japanese   Publisher：(一社)日本小児神経外科学会  

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Language：English   Publishing type：Research paper (scientific journal)  

Myxoid pleomorphic liposarcoma (MPLS) is an extremely rare tumor listed in the fifth edition of the WHO classification (2020). Histologically, it mainly comprises a mixture of myxoid and pleomorphic liposarcoma-like components. Genetically, it lacks FUS/EWSR1::DDIT3 fusion and MDM2 amplification. Herein, we describe an example of MPLS with rhabdoid cells in a 10-year-old girl who presented with a growing mass in the right inguinal region. The specimen from the wide excision measured 68 mm × 55 mm × 43 mm, and a circumscribed and lobulated mass was observed in the subcutaneous tissue. Histologically, oval-to-short, spindle-shaped, proliferating tumor cells with moderate nuclear atypia and mesh-like capillaries against a myxoid background were noted. Adipocytes were observed focally, while rhabdoid cells were observed multifocally. Immunohistochemically, the tumor showed inconsistent reactivity for desmin but was negative for MYOD1, myogenin, MDM2, and CDK4. Fluorescence in situ hybridization revealed no DDIT3 rearrangement. Despite adjuvant chemotherapy, the tumor metastasized to the thoracic cavity 24 months after excision. The metastatic lesions contained abundant lipoblasts rather than rhabdoid cells, and we concluded this tumor was a MPLS. The presence of rhabdoid cells could be a diagnostic pitfall, and recognizing such a variation in histology would help improve diagnostic accuracy.

DOI： 10.1177/10668969241226695

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：English   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：医学図書出版(株)  

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Language：Japanese   Publisher：医学図書出版(株)  

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Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND/PURPOSE: There is currently no consensus on the use of endoscopic papillectomy (EP) for early stage duodenal ampullary adenocarcinoma. This study aimed to evaluate the feasibility of EP for patients with early stage duodenal ampullary adenocarcinoma. METHODS: Patients who underwent EP for ampullary adenocarcinomas were investigated. Complete and clinical complete resection rates were evaluated. Clinical complete resection was defined as either complete resection or resection with positive or unknown margins but no cancer in the surgically resected specimen, or no recurrence on endoscopy after at least a 1-year follow-up. RESULTS: Adenocarcinoma developed in 30 patients (carcinoma in situ [Tis]: 21, mucosal tumors [T1a(M)]: 4, tumors in the sphincter of Oddi [T1a(OD)]: 5). The complete resection rate was 60.0% (18/30) (Tis: 66.7% [14/21], T1a[M]: 50.0% [2/4], and T1a[OD]: 40.0% [2/5]). The mean follow-up period was 46.8 months. The recurrence rate for all patients was 6.7% (2/30). The clinical complete resection rates of adenocarcinoma were 89.2% (25/28); rates for Tis, T1a(M), and T1a(OD) were 89.4% (17/19), 100% (4/4), and 80% (4/5), respectively. CONCLUSIONS: EP may potentially achieve clinical complete resection of early stage (Tis and T1a) duodenal ampullary adenocarcinomas.

DOI： 10.1002/jhbp.1398

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PURPOSE: The 2021 World Health Organization (WHO) classification of central nervous system (CNS) tumors uses an integrated approach involving histopathology and molecular profiling. Since majority of adult malignant brain tumors are gliomas and primary central nervous system lymphomas (PCNSL), rapid differentiation of these diseases is required for therapeutic decisions. Additionally, diffuse gliomas require molecular information on single nucleotide variants (SNV), such as IDH1/2. Here, we report an intraoperative integrated diagnostic (i-ID) system to classify CNS malignant tumors, which updates legacy frozen section (FS) diagnosis through incorporation of a quantitative polymerase chain reaction (qPCR)-based genotyping assay. EXPERIMENTAL DESIGN: FS evaluation, including GFAP and CD20 rapid immunohistochemistry, was performed on adult malignant CNS tumors. PCNSL was diagnosed through positive CD20 and negative GFAP immunostaining. For suspected glioma, genotyping for IDH1/2, TERT SNV, and CDKN2A copy number alteration was routinely performed, whereas H3F3A and BRAF SNV were assessed for selected cases. i-ID was determined based on the 2021 WHO classification and compared with the permanent integrated diagnosis (p-ID) to assess its reliability. RESULTS: After retrospectively analyzing 153 cases, 101 cases were prospectively examined using the i-ID system. Assessment of IDH1/2, TERT, H3F3AK27M, BRAFV600E, and CDKN2A alterations with i-ID and permanent genomic analysis was concordant in 100%, 100%, 100%, 100%, and 96.4%, respectively. Combination with FS and intraoperative genotyping assay improved diagnostic accuracy in gliomas. Overall, i-ID matched with p-ID in 80/82 (97.6%) patientswith glioma and 18/19 (94.7%) with PCNSL. CONCLUSIONS: The i-ID system provides reliable integrated diagnosis of adult malignant CNS tumors.

DOI： 10.1158/1078-0432.CCR-23-1660

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(一社)日本胆道学会  

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Language：English  

Since the popularization of cancer screening and an improvement in treatment over the last two decades, multiple primary malignant neoplasms (MPMNs) have been increasingly reported. We report a patient who developed metachronous MPMNs in the breast, the endometrium, and the pancreas over a period of 13 years. A 42-year-old woman was first diagnosed with breast cancer and underwent breast-conserving surgery with adjuvant radiation therapy and endocrine therapy. Four years after breast surgery, she was diagnosed with endometrial cancer and underwent a laparoscopic modified radical hysterectomy with bilateral oophorectomy with pelvic lymph node dissection followed by adjuvant chemotherapy. However, there was peritoneal dissemination of endometrial cancer 1 year after surgery, which could be removed laparoscopically followed by adjuvant chemotherapy. Ten years after breast cancer surgery, pleural metastasis of breast cancer was diagnosed and treated by endocrine therapy. Thirteen years after breast cancer surgery, a pancreatic tumor with multiple liver masses emerged. It was difficult to diagnose whether primary or metastasis cancer by the results of the pathological analysis. Finally, we diagnosed primary pancreatic cancer with liver metastasis by clinical examination with the BRCA2-pathogenic variant. These tumors were well responded to chemotherapy and the patient survived during a follow-up period of 8 months. According to MPMNs, breast cancer patients should be followed-up carefully for the possibility of BRCA pathogenic variant and development of different primary malignant neoplasms.

DOI： 10.14740/wjon1658

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Language：Japanese   Publisher：(公社)神奈川県医師会  

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Language：Japanese   Publisher：(公社)日本整形外科学会  

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Language：Japanese   Publisher：日本外科系連合学会  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：(一財)日本消化器病学会  

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Language：English   Publishing type：Research paper (scientific journal)  

Biphenotypic sinonasal sarcoma is a newly established tumor entity that is associated with distinct clinicopathological findings. Biphenotypic sinonasal sarcoma is a rare, low-grade spindle cell sarcoma that arises in middle-aged females, exclusively in the sinonasal tract. A fusion gene involving PAX3 is detected in most biphenotypic sinonasal sarcomas, which aids in its diagnosis. Here, we report a case of biphenotypic sinonasal sarcoma with its cytological findings. The patient was a 73-year-old woman who presented with purulent nasal discharge and dull pain in the left cheek area. Computed tomography showed a mass extending from the left nasal cavity to the left ethmoid sinus, the left frontal sinus, and the frontal skull base. She underwent a combined transcranial and endoscopic approach for en bloc resection with a safety margin. Histologically, spindle-shaped tumor cells have been thought to proliferate mainly in the subepithelial stroma. Here, nasal mucosal epithelial hyperplasia was noted, and the tumor had invaded the bone tissue accompanying the epithelial cells. Fluorescence in situ hybridization (FISH) analysis showed a PAX3 rearrangement, and next-generation sequencing identified a PAX3::MAML3 fusion. Based on FISH, split signals were observed not in respiratory cells but in stromal cells. This indicated that respiratory cells were non-neoplastic. In the diagnosis of biphenotypic sinonasal sarcoma, the inverted growth of the respiratory epithelium can be a diagnostic pitfall. FISH analysis using a PAX3 break-apart probe is helpful not only for an accurate diagnosis but also for detecting the true neoplastic cells.

DOI： 10.1177/10668969231152577

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Language：Japanese   Publisher：日本消化器病学会-関東支部  

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Language：Japanese   Publisher：医学図書出版(株)  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：医学図書出版(株)  

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Language：Japanese   Publisher：医学図書出版(株)  

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Language：English   Publishing type：Research paper (scientific journal)  

PURPOSE: Molecular targeted therapy using BRAF and/or MEK inhibitors has been applied to BRAFV600E mutant high-grade gliomas (HGGs); however, the therapeutic effect is limited by the emergence of drug resistance. EXPERIMENTAL DESIGN: We established multiple paired BRAFV600E mutant HGG patient-derived xenograft (PDX) models based on tissues collected prior to and at relapse after molecular targeted therapy. Using these models, we dissected treatment resistant mechanisms for molecular targeted therapy and explored therapeutic targets to overcome resistance in BRAFV600E HGG models in vitro and in vivo. RESULTS: We found that, despite causing no major genetic and epigenetic changes, BRAF and/or MEK inhibitor treatment deregulated multiple negative feedback mechanisms, which led to the re-activation of the MAPK pathway through c-Raf and AKT signaling. This altered oncogenic signaling primarily mediated resistance to molecular targeted therapy in BRAFV600E mutant HGG. To overcome this resistance mechanism, we performed a high-throughput drug screening to identify therapeutic agents that potently induce additive cytotoxicity with BRAF and MEK inhibitors. We discovered that HSP90 inhibition combined with BRAF/MEK inhibition coordinately deactivated the MAPK and AKT/mTOR pathways, and subsequently induced apoptosis via dephosphorylation of GSK3β (Ser9) and inhibition of Bcl-2 family proteins. This mediated potent cytotoxicity in vitro and in vivo in refractory models with acquired resistance to molecular-targeted therapy. CONCLUSIONS: The combination of an HSP90 inhibitor with BRAF or MEK inhibitors can overcome the limitations of the current therapeutic strategies for BRAFV600E mutant HGG.

DOI： 10.1158/1078-0432.CCR-21-3622

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Serous endometrial intraepithelial carcinoma is the precursor of invasive uterine serous carcinoma. Here, we present two cases of serous endometrial intraepithelial carcinoma with omental micrometastasis and discuss their clinical significance. Two menopausal patients with abnormal endometrial biopsy findings underwent hysterectomy and comprehensive surgical staging (bilateral salpingo-oophorectomy, omentectomy, and pelvic and para-aortic lymphadenectomy). Although gross examination failed to detect tumors, the pathological diagnosis was serous endometrial intraepithelial carcinoma. Both patients had omental micrometastasis; they were diagnosed with International Federation of Gynecology and Obstetrics stage IVB disease and received postoperative chemotherapy. One patient died of the carcinoma 9 months after the hysterectomy, and the other had a recurrence of carcinoma 17 months after the end of the initial therapy. The present cases and literature review highlight the importance of meticulous inspection for micrometastasis in the abdominal cavity, including the omentum and peritoneum, for predicting prognosis.

DOI： 10.1111/jog.15020

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Language：Japanese   Publisher：日本消化器病学会-関東支部  

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Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND: The role of hepatic iron overload (HIO) in nonalcoholic fatty liver disease (NAFLD) pathogenesis has not been fully elucidated. PURPOSE: This study aimed to investigate the effect of HIO and examine the diagnostic usefulness of magnetic resonance imaging (MRI)-based R2* quantification in evaluating hepatic iron content (HIC) and pathological findings in NAFLD. STUDY TYPE: Prospective and retrospective. POPULATION: A prospective study of 168 patients (age, 57.2 ± 15.0; male/female, 80/88) and a retrospective validation study of 202 patients (age, 57.0 ± 14.4; male/female, 113/89) with liver-biopsy-confirmed NAFLD were performed. FIELD STRENGTH/SEQUENCE: 3 T; chemical-shift encoded multi-echo gradient echo. ASSESSMENT: Using liver tissues obtained by liver biopsy, HIC was prospectively evaluated in 168 patients by atomic absorption spectrometry. Diagnostic accuracies of HIC and R2* for grading hepatic inflammation plus ballooning (HIB) as an indicator of NAFLD activity were assessed. STATISTICAL TESTS: Student's t-test and analysis of variance (ANOVA) with Scheffe's multiple testing correction for univariate comparisons; multivariate logistic analysis. P-value less than 0.05 is statistically significant. RESULTS: HIC was significantly correlated with HIB grades (r = 0.407). R2* was significantly correlated with HIC (r = 0.557) and HIB grades (r = 0.569). R2* mapped an area under the receiver operating characteristic (AUROC; 0.774) for HIC ≥808 ng/mL (median value) with cutoff value of 62.5 s-1 . In addition, R2* mapped AUROC of HIB for grades ≥3 was 0.799 with cutoff value of 58.5 s-1 . When R2* was <62.5 s-1 , R2* correlated weakly with HIC (r = 0.372) as it was affected by fat deposition and did not correlate with HIB grades (P = 0.052). Conversely, when R2* was ≥62.5 s-1 , a significant correlation of R2* with HIC (r = 0.556) and with HIB grades was observed (P < 0.0001) with being less affected by fat deposition. DATA CONCLUSION: R2*  ≥ 62.5 s-1 is a promising modality for non-invasive diagnosis of clinically important high grades (≥3) of HIB associated with increased HIC. LEVEL OF EVIDENCE: 1 TECHNICAL EFFICACY STAGE: 2.

DOI： 10.1002/jmri.27810

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Language：English   Publishing type：Research paper (scientific journal)  

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are fatal adverse skin reactions characterized by high fever, epidermal detachment, and mucositis. It is well known that SJS/TEN occasionally affects various organs, leading to permanent damage and death in some patients. Although acute liver dysfunction is a relatively common complication of SJS/TEN, severe acute liver dysfunction requiring liver transplantation is rare. We present the case of a 14-year-old girl with SJS complicated by severe and rapidly progressive liver dysfunction, specifically, acute liver failure (ALF) requiring liver transplantation. A lymphocyte transformation test showed positive results for acetaminophen and cefdinir. Furthermore, human leukocyte antigen (HLA) genotyping revealed the presence of the HLA-A*02:06 genotype, which is reported to be strongly associated with acetaminophen-related SJS/TEN with severe ocular complications. These results suggested that our patient may have presented with acetaminophen-induced SJS complicated by ALF, but no ocular complications. This is the first report of a pediatric patient with SJS who required liver transplantation. In rare instances, severe liver dysfunction requiring liver transplantation should be considered as a possible complication of SJS/TEN.

DOI： 10.1111/1346-8138.15963

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：(一社)日本小児神経外科学会  

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Language：Japanese   Publisher：(一社)日本小児神経外科学会  

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Publishing type：Research paper (scientific journal)   Publisher：BMJ  

<sec><title>Objectives</title>To determine clinical and genetic features of individuals with relapsing polychondritis (RP) likely caused by pathogenic somatic variants in ubiquitin-like modifier activating enzyme 1 (<italic>UBA1</italic>).

</sec><sec><title>Methods</title>Fourteen patients with RP who met the Damiani and Levine criteria were recruited (12 men, 2 women; median onset age (IQR) 72.1 years (67.1–78.0)). Sanger sequencing of <italic>UBA1</italic> was performed using genomic DNA from peripheral blood leukocytes or bone marrow tissue. Droplet digital PCR (ddPCR) and peptide nucleic acid (PNA)-clamping PCR were used to detect low-prevalence somatic variants. Clinical features of the patients were investigated retrospectively.

</sec><sec><title>Results</title><italic>UBA1</italic> was examined in 13 of the 14 patients; 73% (8/11) of the male patients had somatic <italic>UBA1</italic> variants (c.121A&gt;C, c.121A&gt;G or c.122T&gt;C resulting in p.Met41Leu, p.Met41Val or p.Met41Thr, respectively). All the variant-positive patients had systemic symptoms, including a significantly high prevalence of skin lesions. ddPCR detected low prevalence (0.14%) of somatic variant (c.121A&gt;C) in one female patient, which was subsequently confirmed by PNA-clamping PCR.

</sec><sec><title>Conclusions</title>Genetic screening for pathogenic <italic>UBA1</italic> variants should be considered in patients with RP, especially male patients with skin lesions. The somatic variant in <italic>UBA1</italic> in the female patient is the first to be reported.

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DOI： 10.1136/annrheumdis-2021-220089

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：English   Publishing type：Research paper (scientific journal)  

DOI： 10.1016/j.ajoms.2020.10.006

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Partial deletions in chromosomes 1p and 19q are found in a subset of astrocytic tumors; however, it remains unclear how these alterations affect their histological features and prognosis. Herein, we present 3 cases of isocitrate dehydrogenase (IDH)-mutant astrocytoma with chromosome 19q13 deletion. In the first case, the primary tumor harbored an IDH1 mutation with chromosome 1p/19q partial deletions, which covered 19q13 and exhibited a durable initial response to radiotherapy and temozolomide (TMZ) treatment. However, the tumor lost the chromosome 1p/19q partial deletions at recurrence and became resistant to TMZ. Histologically, an oligodendroglioma-like feature was found in the primary tumor but not in the recurrent tumor. Capicua transcriptional repressor (CIC), located on 19q13, was less expressed in the primary tumor but was highly expressed in the recurrent tumor. Similar histological findings were observed in 2 other astrocytic tumors with IDH1 or IDH2 mutations. These tumors also had chromosome 19q13 deletion, including the CIC gene, weakly expressed CIC, and oligodendroglioma-like morphology. These tumors recurred at 6 and 32 months, respectively. These findings suggest that IDH-mutant astrocytoma with chromosome 19q13 partial deletion, including the CIC gene, may induce an oligodendroglioma-like phenotype, but the clinical prognosis may not be similar to that of genetically defined oligodendroglioma.

DOI： 10.1093/jnen/nlaa161

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Publishing type：Research paper (scientific journal)   Publisher：Wiley  

DOI： 10.1002/ijc.33315

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Other Link： https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ijc.33315

Language：English   Publishing type：Research paper (scientific journal)  

Actinomycotic osteomyelitis is an aggressive and persistent disease capable of invading and destroying bone, and chronic osteomyelitis with proliferative periostitis represents new bone formation with periosteal reaction. We report a rare case of actinomycotic osteomyelitis with proliferative periostitis arising in the mandibular ramus and spontaneous bone regeneration after coronoidectomy. A 14-year-old girl was referred for swelling in the right parotid-masseteric region and severe trismus. Contrast-enhanced CT revealed that heterogenous enhancement of the right masseter muscle, and a reactive bone formation over the lateral cortex of the right mandibular ramus and osteolysis of the condyle were seen in plain CT. MRI showed that the mandibular ramus was a low-signal intensity and the reactive bone on the ramus was signal intensity similar to muscle on T1-weighted images. The lesion was clinically and radiologically diagnosed as chronic osteomyelitis of the mandibular ramus. However, a biopsy was performed intraorally under general anesthesia to rule out a malignant bone tumor, and pathological examination showed fibrous bone and Actinomyces druses. Finally, the lesion was diagnosed as actinomycotic osteomyelitis with proliferative periostitis. She underwent image-guided intraoral removal of impacted right third molar and reactive proliferative bone on the right mandibular ramus under general anesthesia. To improve trismus, coronoidectomy also was performed. After the discharge, AMPC was administrated intraorally for 7.5 months. Postoperative panoramic radiograph and CT showed the right mandibular angle resorption and coronoid process regeneration. There was no recurrence of mandibular osteomyelitis 7 years after surgery.

DOI： 10.1007/s11282-020-00462-x

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Dermatofibrosarcoma protuberans (DFSP) originates from the dermal layer of the skin; the optimum treatment is an extended marginal resection. We describe a case of DFSP of the scalp with a skull invasive defect that was thoroughly examined pathologically to determine the optimum length of surgical margins. The tumor cells infiltrated up to 26 mm into the dermal tissues, whereas no infiltrating tumor cells were present in the skull, indicating the combination of marginal resection of the dermal tissues and lower of the skull can be a clinically relevant strategy for treatment of DFSP cases with skull invasion.

DOI： 10.2176/nmccrj.cr.2020-0297

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Language：English   Publishing type：Research paper (scientific journal)  

Primary central nervous system lymphoma (PCNSL) is an isolated type of lymphoma of the central nervous system and has a dismal prognosis despite intensive chemotherapy. Recent genomic analyses have identified highly recurrent mutations of MYD88 and CD79B in immunocompetent PCNSL, whereas LMP1 activation is commonly observed in Epstein-Barr virus (EBV)-positive PCNSL. However, a lack of clinically representative preclinical models has hampered our understanding of the pathogenic mechanisms by which genetic aberrations drive PCNSL disease phenotypes. Here, we establish a panel of 12 orthotopic, patient-derived xenograft (PDX) models from both immunocompetent and EBV-positive PCNSL and secondary CNSL biopsy specimens. PDXs faithfully retained their phenotypic, metabolic, and genetic features, with 100% concordance of MYD88 and CD79B mutations present in PCNSL in immunocompetent patients. These models revealed a convergent functional dependency upon a deregulated RelA/p65-hexokinase 2 signaling axis, codriven by either mutated MYD88/CD79B or LMP1 with Pin1 overactivation in immunocompetent PCNSL and EBV-positive PCNSL, respectively. Notably, distinct molecular alterations used by immunocompetent and EBV-positive PCNSL converged to deregulate RelA/p65 expression and to drive glycolysis, which is critical for intracerebral tumor progression and FDG-PET imaging characteristics. Genetic and pharmacologic inhibition of this key signaling axis potently suppressed PCNSL growth in vitro and in vivo. These patient-derived models offer a platform for predicting clinical chemotherapeutics efficacy and provide critical insights into PCNSL pathogenic mechanisms, accelerating therapeutic discovery for this aggressive disease. SIGNIFICANCE: A set of clinically relevant CNSL xenografts identifies a hyperactive RelA/p65-hexokinase 2 signaling axis as a driver of progression and potential therapeutic target for treatment and provides a foundational preclinical platform. GRAPHICAL ABSTRACT: http://cancerres.aacrjournals.org/content/canres/80/23/5330/F1.large.jpg.

DOI： 10.1158/0008-5472.CAN-20-2425

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Language：Japanese   Publishing type：Research paper (scientific journal)  

A case of 69-year-old man underwent resection for the plantar surface of left foot malignant melanoma and received a sentinel biopsy of left inguinal lymph node. Two years and 10 months later, a mass of 30 mm in diameter in the ileum was detected by contrast-enhanced computed tomography, which showed abnormal uptake using FDG positron emission tomography. The partial intestinal resection was performed, and then, the mass was diagnosed as metastasis of malignant melanoma by pathological examination. Malignant melanoma is highly malignant disease that frequently shows distant metastasis. Although the malignant melanoma with distant metastasis shows poor prognosis, previous studies reported the prognosis could be improved when the patient could receive curative resection for single intraabdominal metastasis. Therefore, surgical resection should be considered for the single metastasis of malignant melanoma. We report a case of malignant melanoma with ileum metastasis resected curatively with literature review.

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(一社)日本小児神経外科学会  

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Publishing type：Research paper (scientific journal)   Publisher：Elsevier BV  

DOI： 10.1016/j.ajoms.2020.08.008

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We present a case of a 14-year old boy with tumor-associated refractory epilepsy. Positron emission tomography imaging demonstrated a region with heterogeneous high 11C-methionine uptake and a region with homogenous low 18F-fluorodeoxyglucose uptake within the tumor. Histopathological and genomic analyses confirmed the tumor as BRAF V600E-mutated polymorphous low-grade neuroepithelial tumor of the young (PLNTY). Within the high-methionine-uptake region, we observed increased protein levels of L-type amino acid transporter 1 (LAT1), a major transporter of methionine; c-Myc; and constituents of the mitogen-activated protein kinase (MAPK) pathway. We also found that LAT1 expression was linked to the BRAF V600E mutation and subsequent activation of MAPK signaling and c-Myc. Pharmacological and genetic inhibition of the MAPK pathway suppressed c-Myc and LAT1 expression in BRAF V600E-mutated PLNTY and glioblastoma cells. The BRAF inhibitor dabrafenib moderately suppressed cell viability in PLNTY. Collectively, our results indicate that BRAF V600E mutation-activated MAPK signaling and downstream c-Myc induces specific metabolic alterations in PLNTY, and may represent an attractive target in the treatment of the disease.

DOI： 10.1186/s40478-020-01023-3

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本皮膚科学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：English   Publishing type：Research paper (scientific journal)  

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Language：English   Publishing type：Research paper (scientific journal)  

Primary central nervous system lymphoma (PCNSL) is a rare and aggressive type of extranodal non-Hodgkin lymphoma that carries an unsatisfactory prognosis. Treating refractory PCNSL is challenging because of resistance to conventional cytotoxic and intrathecal chemotherapies. Therefore, novel therapeutic approaches are needed. Here, we report a 12-year-old boy with CD20-positive PCNSL, which was refractory to combination chemotherapy and intravenous rituximab. However, the patient achieved complete remission after repeated intraventricular rituximab administration. The results of this case indicate that intraventricular rituximab is an effective option to treat refractory PCNSL in children.

DOI： 10.1097/MPH.0000000000001291

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Language：English   Publishing type：Research paper (scientific journal)  

PURPOSE: Oligodendroglioma has a relatively favorable prognosis, however, often undergoes malignant progression. We hypothesized that preclinical models of oligodendroglioma could facilitate identification of therapeutic targets in progressive oligodendroglioma. We established multiple oligodendroglioma xenografts to determine if the PI3K/AKT/mTOR signaling pathway drives tumor progression. EXPERIMENTAL DESIGN: Two anatomically distinct tumor samples from a patient who developed progressive anaplastic oligodendroglioma (AOD) were collected for orthotopic transplantation in mice. We additionally implanted 13 tumors to investigate the relationship between PI3K/AKT/mTOR pathway alterations and oligodendroglioma xenograft formation. Pharmacologic vulnerabilities were tested in newly developed AOD models in vitro and in vivo. RESULTS: A specimen from the tumor site that subsequently manifested rapid clinical progression contained a PIK3CA mutation E542K, and yielded propagating xenografts that retained the OD/AOD-defining genomic alterations (IDH1R132H and 1p/19q codeletion) and PIK3CAE542K, and displayed characteristic sensitivity to alkylating chemotherapeutic agents. In contrast, a xenograft did not engraft from the region that was clinically stable and had wild-type PIK3CA. In our panel of OD/AOD xenografts, the presence of activating mutations in the PI3K/AKT/mTOR pathway was consistently associated with xenograft establishment (6/6, 100%). OD/AOD that failed to generate xenografts did not have activating PI3K/AKT/mTOR alterations (0/9, P < 0.0001). Importantly, mutant PIK3CA oligodendroglioma xenografts were vulnerable to PI3K/AKT/mTOR pathway inhibitors in vitro and in vivo-evidence that mutant PIK3CA is a tumorigenic driver in oligodendroglioma. CONCLUSIONS: Activation of the PI3K/AKT/mTOR pathway is an oncogenic driver and is associated with xenograft formation in oligodendrogliomas. These findings have implications for therapeutic targeting of PI3K/AKT/mTOR pathway activation in progressive oligodendrogliomas.

DOI： 10.1158/1078-0432.CCR-18-4144

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Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND AND AIM: Immunoglobulin G4-related sclerosing cholangitis (IgG4-SC) presents as isolated proximal-type sclerosing cholangitis (i-SC). The present study sought to clarify the imaging differences between i-SC and Klatskin tumor. Differences between i-SC and IgG4-SC associated with autoimmune pancreatitis (AIP-SC) were also studied. METHODS: Differentiating factors between i-SC and Klatskin tumor were studied. Serum IgG4 level, CA19-9 level, computed tomography (CT) findings, cholangiography findings (symmetrical smooth long stricture extending into the upper bile duct [SSLS]), endosonographic features (continuous symmetrical mucosal lesion to the hilar part [CSML]), endoscopic biopsy results, treatment, relapse, and survival were also compared between patients with i-SC and those with AIP-SC. RESULTS: For a differential diagnosis between i-SC (N = 9) and Klatskin tumor (N = 47), the cut-off value of serum IgG4 level was 150 mg/dL (sensitivity, 0.857, specificity, 0.966). Logistic regression analysis indicated that serum IgG4 level, presence of SSLS, presence of CSML, and presence of swollen ampulla are independent factor for identifying i-SC. Relapse rate was significantly higher in the IgG4-SC with AIP group than in the i-SC group (log rank, P = 0.046). CONCLUSION: Isolated proximal-type sclerosing cholangitis presents as a nodular lesion with SSLS and/or CSML mimicking a Klatskin tumor. Those endoscopic features might provide a diagnostic clue for i-SC. i-SC is likely to have a more favorable prognosis than IgG4-SC with AIP.

DOI： 10.1111/den.13320

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Language：Japanese   Publisher：(一社)関東連合産科婦人科学会  

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INTRODUCTION: The World Health Organization (WHO) proposed an integrated classification for intraductal papillary neoplasm of the bile duct (IPNB) in 2010. However, IPNB reportedly shows considerable geographic variation. This Japanese single-institution study examined outcomes of surgery for IPNB and the prognostic impact of immunohistochemical mucin expression patterns. MATERIALS AND METHODS: Patients with IPNB were identified from 413 patients who underwent curative-intent surgery for biliary tract (excluding gallbladder) neoplasms from 1992 to 2016 by retrospective macro- and microscopic reevaluation of resected specimens. Their clinicopathological variables were analyzed. RESULTS: Twenty-two (5%) 2010 WHO classification-based patients with IPNB were identified. The other 391 patients had common-type cholangiocarcinoma. The histopathological grade was low/intermediate in 2 patients (9%), high in 8 (36%), and invasive carcinoma (ICa) in 12 (55%). The 10-year overall survival rate was 100% in 10 patients with low-high grade IPNB and 69% in 12 patients with ICa. These rates were significantly (p = 0.018) or marginally (p = 0.089) better than that (38%) of 391 other-cholangiocarcinoma patients. In the 12 patients with ICa, R0 or R1 resection, MUC5AC, and MUC6 expression significantly affected survival. Notably, all seven patients with ICa exhibiting MUC5AC expression survived throughout the study period, while four of five patients with ICa who did not exhibit MUC5AC expression died of recurrence (with vs. without MUC5AC: 10-year overall survival, 100% vs. 60%, respectively; p = 0.018). CONCLUSION: Our 24-year, single institution's experience suggests that Japanese patients with IPNB favorably respond to surgery, even with ICa. MUC5AC and MUC6 expression may be predictive of favorable outcomes.

DOI： 10.1016/j.ejso.2018.10.532

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本外科学会  

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Language：English   Publishing type：Research paper (scientific journal)  

Background: Application of next-generation DNA sequencing (NGS) has recently become increasingly common in the field of clinical oncology in several countries around the world. In Japan also, a system for applying NGS to routine clinical practice is gradually being established. During this process, we introduced in Japan the tumor-profiling MSK-IMPACT (Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets) assay. Methods: We present here our initial experience with the use of MSK-IMPACT in 68 patients selected from two institutions in Japan between June 2016 and October 2017. Results: MSK-IMPACT sequencing was successful and yielded results in specimens obtained from 64 of the 68 patients, representing an overall assay success rate of 94.1%. The top three cancer types tested were endometrial cancer (17.2%), pancreatic cancer (15.6%) and colorectal cancer (12.5%). Evaluation of the clinical actionability of the genetic alterations revealed that 25.0% of patients (n = 16) harbored at least one actionable alteration. However, enrolling the patients in a genomically matched clinical trial was difficult, mainly because most clinical trials are limited to tumors arising from a specific organ/site. One patient with microsatellite instability-high status, as determined by MSK-IMPACT, was treated with pembrolizumab and showed partial response. Conclusions: Although tumor profiling by NGS and administration of genomically matched therapy is a promising strategy, because of its high cost, we need to consider how we can fit it into the Japanese medical system. Towards this end, we believe that it is important to share our initial experience for furthering precision medicine in Japan.

DOI： 10.1093/jjco/hyy173

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Language：English  

In the revised World Health Organization classification 2016, anaplastic pleomorphic xanthoastrocytoma (PXA) has been newly defined as a variant of the PXA entity. Furthermore, some anaplastic PXA were reported to have extremely poor prognosis which showed a type of pediatric glioblastoma (GBM) molecular profile. Recent integrated molecular classification for primary central nervous system tumors proposed some differences between histological and molecular features. Herein, in a genome-wide molecular analysis, we show an extreme aggressive anaplastic PXA that resulted in a pediatric GBM molecular profile. A full implementation of the molecular approach is the key to predict prognosis and decide the treatment strategy for anaplastic PXA.

DOI： 10.1111/cas.13903

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：Japanese College of Surgeons  

The patient was a 54-year-old woman with Neurofibromatosis type 1: von Recklinghausen disease (vRD), who presented with the chief complaint of bloody stools. Capsule endoscopic examination led to the suspicion of a small tumor in the upper small intestine, and oral and transanal endoscopies were performed. The patient was diagnosed as having gastrointestinal stromal tumors (GISTs) and laparoscopic surgery was performed. There were multiple GISTs in the small intestine, totalling 12 in number, measuring 2-50 mm in diameter. A small number of vRD cases complicated by GISTs have recently been reported. We encountered a patient with mulitple small-intestinal GISTs associated with vRD who we treated by laparoscopic surgery. For multiple leasions as in this case, laparoscopic exploration may be a useful approach. Herein, we report a case with a review of the relevant literature.

DOI： 10.4030/jjcs.44.49

CiNii Research

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Other Link： https://search.jamas.or.jp/link/ui/2019130431

Publishing type：Research paper (scientific journal)   Publisher：Medknow  

DOI： 10.4103/ajns.ajns_158_19

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Language：Japanese   Publisher：(一社)日本消化器外科学会  

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Language：Japanese   Publisher：(公社)日本皮膚科学会  

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Language：English   Publisher：(一社)日本癌治療学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：English   Publishing type：Research paper (scientific journal)  

Sandhoff disease (SD) is a genetic disorder caused by a mutation of the β-subunit gene β-hexosaminidase B (HexB) in humans, which results in the massive accumulation of the ganglioside GM2 and related glycosphingolipids in the nervous system. SD causes progressive neurodegeneration and changes in white matter in human infants. An animal model of SD has been established, Hexb-deficient (Hexb) mice, which shows abnormalities resembling the severe phenotype found in human infants. Previously, we reported that the activation state of microglia caused astrogliosis in the early stage of Hexb mouse development. To study how the symptoms of SD develop, we explored the difference in gene expression between 4-week-old Hexb and Hexb mouse cerebral cortices by microarray analysis. The data indicated not only the upregulation of immune system-related genes but also the downregulation of myelin-related genes in the 4-week-old Hexb mouse cerebral cortices. To test the correlation between inflammation and dysmyelination, we generated double-knockout mice of Hexb and the Fc receptor γ gene (Fcrγ), which is a regulator of autoimmune responses. Dysmyelination recovered in these double-knockout mice. The number of oligodendrocyte progenitors, which expressed platelet-derived growth factor receptor-α, did not change in the 2-week-old mouse brain. These results indicate that microglial activation plays an important role in the myelination process, without influencing the number of oligodendrocyte progenitors, in the development of Hexb mice.

DOI： 10.1097/WNR.0000000000001060

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Language：Japanese   Publisher：神奈川県医師会  

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Language：English   Publishing type：Research paper (scientific journal)  

OBJECTIVE: The purpose of this study is to validate the applicability of new TNM classification for human papillomavirus (HPV)-related oropharyngeal cancer (OPC) in the 8th edition of the American Joint Committee on Cancer (AJCC)/Union for International Cancer Control (UICC) TNM staging system in Japan. METHODS: A total of 91 OPC patients treated with radiation-based therapy between November 2001 and July 2015 were analyzed retrospectively in this study. HPV infection status was evaluated using tumor p16 expression. RESULTS: 40 OPC patients (44.0%) had HPV-positive disease in this study. The distribution of disease stage of HPV-positive OPC patients dramatically changed from the 7th edition to the 8th edition of AJCC/UICC TNM classification. However, neither the 8th edition nor the 7th edition of the AJCC/UICC TNM staging system could adequately predict outcomes of HPV-positive OPC patients in our patient series. On the other hand, our multivariate analysis indicated that matted nodes and age ≥63 were independent prognostic factors for progression-free survival. In addition, HPV-positive OPC patients with stage I without matted nodes showed significantly better overall and progression-free survival compared with those with stage I with matted nodes and stages II and III in the 8th edition of the AJCC/UICC TNM staging system (P=0.008, and P=0.043, respectively). CONCLUSION: Our results suggested that matted nodes of HPV-positive OPC patients might be additionally examined to apply the 8th edition of AJCC/UICC TNM classification for more adequate predicting outcomes of HPV-positive OPC patients.

DOI： 10.1016/j.anl.2017.07.010

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Language：English   Publishing type：Research paper (scientific journal)  

Ciliated muconodular papillary tumors (CMPTs) are a recently categorized benign or low-grade malignant neoplasm that develops in the peripheral lung. Only about 40 cases have been reported to date, and the clinicopathological characteristics have yet to be defined in detail. Here, we present four cases of CMPTs with a focus on their immunohistochemical profiles and driver gene mutations. These tumors were a papillary proliferation of a mixture of ciliated, mucous, and basal cells located in the peripheral lung. Ciliated, mucous and basal cells were positive for TTF-1 when using the clone SPT24, but negative for HNF-4α. Basal cells were positive for p40. Mucous cells in some tumors were positive for MUC5AC and MUC6. The Ki-67 index was less than 5%, and strong expression of p53 was not detected. Three of the four tumors had a BRAF (V600E) driver mutation, an EGFR (del E746-T751/S752V) driver mutation, or driver mutations in both EGFR (E709G) and KRAS (G12V). These mutation types are rare for any histological type of lung cancer. The present results confirmed that CMPT is a neoplasm with immunohistochemical features and driver gene mutations that are distinct from those of common lung tumors.

DOI： 10.1111/pin.12664

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Language：English   Publishing type：Research paper (scientific journal)  

BACKGROUND: Paragangliomas are generally benign, slow-growing tumors. However, approximately 10%-20% are malignant, characterized by distant metastasis. Recently, a germ line mutation in succinate dehydrogenase B subunit (SDHB) has been shown to be associated with malignant behavior in paraganglioma. Here we present a case of SDHB-negative malignant paraganglioma of the jugular foramen with a pseudohypoxic microenvironment and unique imaging features on [18F]-fluoro-2-deoxy-d-glucose positron emission tomography ([18F]-FDG PET), and discuss the significance of SDHB immunohistochemistry and the potential of [18F]-FDG PET for clinical management. CASE DESCRIPTION: A 55-year-old woman was diagnosed with jugular foramen paraganglioma. Initial surgical resection was performed; however, follow-up [18F]-FDG PET indicated multiple uptake regions throughout the body. Biopsies for multiple recurrent lesions revealed consistent pathological features, suggesting distant metastasis. Immunohistochemical analysis revealed a lack of SDHB immunostaining in all specimens. Pseudohypoxic markers, including hypoxia-inducible factor-1α and downstream glycolysis enzymes, were strongly expressed. [18F]-FDG PET demonstrated increased uptake in the lesions, and the patient died 3 years after initial metastasis. CONCLUSION: In patients with head and neck paraganglioma without SDHB expression, close follow-up should be considered because of the risk for metastasis. In such cases, [18F]-FDG PET might be useful for detecting metastasis due to atypical accumulation from pseudohypoxia-induced glycolysis.

DOI： 10.1016/j.wneu.2018.02.147

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier Inc  

DOI： 10.1016/j.ehpc.2017.11.003

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AIMS: Psammoma bodies are concentrically lamellated microscopic structures made of calcium. They are commonly observed in papillary carcinomas of the thyroid gland and serous papillary adenocarcinomas of the ovary, but are also occasionally detected in lung adenocarcinomas. Only one study, published in 1972, has systematically described the significance of psammoma bodies in lung adenocarcinomas. The aim of this study was to update the significance of psammoma bodies in lung adenocarcinomas from a modern perspective. METHODS AND RESULTS: Psammoma bodies were detected in 7.2% (59/822) of the adenocarcinomas examined, among which the papillary (20.3%, 12/59) and acinar (44.1%, 26/59) histological subtypes, with the feature of a terminal respiratory unit (91.5%, 54/59), were dominant. Malignant potential (cell growth activity measured by Ki67 labelling, lymph node metastasis, and postoperative survival) did not significantly differ between adenocarcinomas with and without psammoma bodies. On the basis of cytogenetic features, adenocarcinomas with psammoma bodies were preferentially affected by tyrosine kinase inhibitor (TKI)-targetable driver mutations [EGFR (69.8%, 37/53), ALK (13.2%, 7/53), and ROS1 (1.9%, 1/53)]. Multivariate analyses confirmed that psammoma bodies may constitute an independent predictor for these mutations, particularly EGFR and ALK mutations. CONCLUSIONS: Psammoma bodies may predict a favourable response of lung adenocarcinomas to TKIs.

DOI： 10.1111/his.13397

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Language：Japanese   Publishing type：Research paper (scientific journal)  

The standard therapy for Stage IV gastric cancer is chemotherapy. It is not certain, but conversion surgery is expected to be effective. We report the cases of 3 patients who achieved long-term survival after conversion surgery. Case 1 was of a 59- year-old woman. The tumor was classified as L-Less Post, Type 2, tub1, cT3N2M1(#16a2lat), Stage IV. Then, we initiated S-1 plus cisplatin and the LN achieved PRafter 4 courses. We performed distal gastrectomy with D2 lymph node dissection in February 2011. It was classified as ypT2N2 and the primary lesion was histologically classified as Grade 1a. Case 2 was of a 74- year-old man. The tumor was classified as UM-Less Ant, Type 3, por1, cT3N2H0P1CY1, Stage IV. Then, we initiated docetaxel plus cisplatin plus S-1 and the primary tumor achieved PRafter 6 courses. There were no new tumors and we conducted a laparoscopic examination. After the decision of P0CY0, we performed total gastrectomy with D2 lymph node dissection in April 2012. It was classified as ypT3N1 and the primary lesion was histologically classified as Grade 2. Case 3 was of a 64-yearold woman. The tumor was classified as UM-Less, Type 3, por1, cT3N2H1M0(liver), Stage IV. Then, we initiated capecitabin plus cisplatin and liver metastasis achieved PRafter 6 courses. We performed total gastrectomy with D2 lymph node dissection in July 2012. It was classified as ypT3N1 and the primary lesion was histologically classified as Grade 1b. All postoperative chemotherapy courses were of only S-1. In case 1, the para aortic LN exhibited recurrence 6 months postoperatively. We initiated weekly paclitaxel as second-line therapy. It achieved CRafter 6 courses, and the same trend was maintained. In cases 2 and 3, no therapy was administered after 8 S-1 courses, but no recurrences occurred. All patients survived after 62-77 months postoperatively. A new clinical trial is needed to prove the improvement in prognosis for Stage IV gastric cancer after conversion surgery.

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Language：English   Publishing type：Research paper (scientific journal)  

Mutations in the MATR3 gene have been identified as a cause of familial amyotrophic lateral sclerosis, but involvement of the matrin 3 (MATR3) protein in sporadic amyotrophic lateral sclerosis (SALS) pathology has not been fully assessed. We immunohistochemically analyzed MATR3 pathology in the spinal cords of SALS and control autopsy specimens. MATR3 immunostaining of the motor neuron nuclei revealed two distinct patterns: mild and strong staining. There were no differences in the ratio of mild versus strong nuclear staining between the SALS and control cases. MATR3-containing neuronal cytoplasmic inclusions (NCIs) were observed in 60% of SALS cases. Most motor neurons with MATR3-positive NCIs exhibited a mild nuclear staining pattern. Although 16.8% of NCIs positive for transactivating response region DNA-binding protein 43 (TDP-43) were estimated as double-labeled by MATR3, no MATR3-positive or TDP-43-negative NCIs were observed. Although a previous study found that MATR3-positive NCIs are present only in cases with C9orf72 hexanucleotide repeat expansion, ubiquitin-positive granular NCIs were not observed in the cerebellum, which have been reported as specific to C9orf72-related ALS. Six ALS cases were confirmed to be negative for the GGGGCC hexanucleotide. Our results reveal that MATR3 is a component of TDP-43-positive NCIs in motor neurons, even in SALS, and indicate the broader involvement of MATR3 in ALS pathology and the heterogeneity of TDP-43-positive NCIs.

DOI： 10.1016/j.ajpath.2017.10.007

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Language：English   Publishing type：Research paper (scientific journal)  

Stomach cancer rarely develops in patients with familial adenomatous polyposis (FAP), and Helicobacter pylori infection may increase the risk of FAP-related gastric cancer. We describe the case of a 64-year-old woman who developed multiple synchronous early gastric cancers without H. pylori infection. Nine cancer lesions were successfully treated by endoscopic submucosal dissection. An immunohistochemical analysis revealed that the tumors were positive for mucin (MUC)2, MUC6, and CDX2, but negative for MUC5AC, suggesting that the tumors were gastrointestinal mixed type. Periodical endoscopic surveillance is important for the detection of cancers at an early stage.

DOI： 10.2169/internalmedicine.8735-16

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier Ltd  

DOI： 10.1016/j.jff.2017.09.043

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Language：English   Publishing type：Research paper (scientific journal)  

Succinate dehydrogenase-deficient renal cell carcinoma (SDH-deficient RCC) is a newly introduced histological type of RCC, which is caused by loss of subunit genes of SDH. It is known to frequently demonstrate familial occurrence and be frequently associated with gastrointestinal stromal tumors and paraganglioma. To date, only 53 cases have been reported. Here, we present an additional case of SDH-deficient RCC occurring in a 40-year-old female. The tumor was histologically biphasic, consisting of tubular and solid architectures. The tumor cells possessed oval nuclei with small nucleoli, and an eosinophilic granular cytoplasm with occasional vacuoles. These cells completely lost the immunohistochemical expression of B subunit of SDH (SDHB). Consequently, the tumor was diagnosed as SDHB-deficient RCC. We identified a novel germ line mutation of the SDHB gene, and also confirmed a hemizygous deletion of the wild-type allele in the tumor cells. To define the pathological characteristics of SDH-deficient RCC, precise diagnosis and accumulation of more cases are required.

DOI： 10.1111/pin.12587

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Language：Japanese   Publisher：(株)癌と化学療法社  

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Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2017&ichushi_jid=J00296&link_issn=&doc_id=20171221480115&doc_link_id=%2Fab8gtkrc%2F2017%2F004412%2F115%2F1393-1395%26dl%3D0&url=http%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fab8gtkrc%2F2017%2F004412%2F115%2F1393-1395%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

Language：English  

BACKGROUND: Primary large cell neuroendocrine carcinoma of the kidney is a rare and generally very aggressive disease. We present a case of a patient with primary large cell neuroendocrine carcinoma of the kidney with cardiac metastasis. CASE PRESENTATION: A 59-year-old Japanese man presented to his previous physician with hematuria. Computed tomography revealed masses in the heart and right kidney, and fluorodeoxyglucose-positron emission tomography showed abnormal uptake in the heart. A cardiac biopsy under transesophageal echocardiographic guidance revealed a metastatic tumor. Subsequently, multiple lung lesions were detected, and a right nephrectomy was performed after these metastases were suspected to have originated from renal carcinoma. Large cell neuroendocrine carcinoma of the kidney was ultimately diagnosed. Pancreatic metastasis was detected on computed tomography postoperatively. Three courses of chemotherapy with carboplatin and irinotecan were administered, and were temporarily effective against the metastatic lesions in the lungs and pancreas. However, our patient's general condition deteriorated with the progression of the lesions, and he died 9 months after his initial examination. CONCLUSIONS: Multi-agent chemotherapy, including platinum-based drugs was effective against large cell neuroendocrine carcinoma metastases, albeit only temporarily. This is the first reported case of large cell neuroendocrine carcinoma with cardiac metastasis.

DOI： 10.1186/s13256-017-1460-7

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：English   Publishing type：Research paper (scientific journal)  

Ependymomas are primary neuroepithelial malignancies that mainly occur during childhood, and arise from ependymal cells along the ventricular systems of the CNS. Recently, it was elucidated that two-thirds of supratentorial (ST) ependymomas harbor oncogenic fusions of RELA, whose protein product is the principal effector of canonical NF-κB signaling. RELA fusion proteins activate signaling for tumor proliferation and malignant progression, resulting in poorer prognoses in these patients compared to those in patients with other ST ependymomas. In this study, we encountered a case of C11orf-RelA fusion-positive ST anaplastic ependymoma that was diagnosed in first tumor resection surgery of multi-staged gross total resection with molecular evidence. In ependymomas, regardless of tumor location or pathological grade, subtotal resection is associated with higher rates of mortality compared with GTR. Molecular analysis based on the application of recent molecular knowledge for ST ependymomas performs a role in appropriate and individualized treatment strategies.

DOI： 10.1007/s10014-017-0297-5

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BACKGROUND: Intracranial mycotic aneurysm (IMA) is a rare neurovascular disease and a well-known complication after infective endocarditis. IMAs potentially carry a high mortality risk resulting from intracranial hemorrhage. Therefore, initial treatment is crucial for IMA patients, but an optimal treatment strategy remains unknown. Herein, we report 1 cases of IMA patients treated with the current usual modalities, and we provide a comprehensive literature review to propose an optimal initial treatment strategy for IMAs. CASE DESCRIPTIONS: Case 1: An 80-year-old man received a diagnosis of ruptured IMA. He immediately underwent trapping surgery and was discharged without neurologic deficit. Case 2: A 36-year-old man with previous aortic root replacement received a diagnosis of ruptured IMA. His general condition was considered too unstable to allow him to undergo direct surgery, and the angiographic access route was limited because of the previous aortic replacement surgery. Therefore, we selected conservative therapy; however, the patient subsequently died after complications from a huge intracerebral hemorrhage during medical treatment. CONCLUSIONS: On the basis of 129 IMA cases across 54 reports published from 2006 to 2016, we propose initial surgical intervention as an optimal treatment for patients with ruptured, and even unruptured, IMAs. Regarding surgical intervention, there was no significant difference in postoperative modified Rankin scale scores between direct surgery and endovascular treatment. By contrast, because antibiotic treatment significantly decreased IMA size in unruptured IMAs, antibiotic treatment might be a reasonable alternative for patients with unruptured IMAs, depending on the patient's situation.

DOI： 10.1016/j.wneu.2017.07.016

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Language：English   Publisher：日本癌学会  

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Language：English   Publisher：日本癌学会  

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Language：Japanese   Publisher：(公社)日本皮膚科学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本消化器外科学会  

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Other Link： https://search.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2017&ichushi_jid=J01117&link_issn=&doc_id=20170725270003&doc_link_id=10.5833%2Fjjgs.2014.0114&url=https%3A%2F%2Fdoi.org%2F10.5833%2Fjjgs.2014.0114&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

Language：Japanese   Publisher：(一社)日本リンパ網内系学会  

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DOI： 10.1007/s00401-016-1664-8

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DOI： 10.1038/srep40518

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Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：Japan Society of Hepatology  

DOI： 10.2957/kanzo.58.632

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BACKGROUND/AIMS: Somatostatin receptor (SSTR) scintigraphy (SRS) is the standard imaging modality for evaluation of gastroenteropancreatic neuroendocrine tumor (GEP-NET) in Western countries. However, this modality was not approved in Japan until recently. The purpose of this study was to evaluate the clinical efficacy of SRS for detecting GEP-NET in Japanese patients. METHODS: Japanese patients with advanced GEP-NET were enrolled and evaluated by the SRS and CT. We also compared SRS and immunohistochemical expression of SSTR type 2a (SSTR2a). RESULTS: We enrolled 16 patients and the primary sites were the pancreas in 9, the stomach in 1, the small intestine in 2, the colon in 3, and unknown in 1. SRS showed positive findings in 3 (100%) of grade 1 (G1) and in 12 (92.3%) of grade 2 (G2) lesions. In the liver, SRS and CT detected lesions in 13 and 14 cases, respectively. The concordance rate of SSTR2a expression with SRS findings was 93.8% in the whole body and 92.9% in the liver. CONCLUSIONS: SRS could detect almost all of G1 and G2. SRS could be useful to detect lesions, with a high concordance rate with CT and pathological findings. We confirmed that SRS is a useful and reliable modality for Japanese patients.

DOI： 10.1159/000470838

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Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：一般社団法人 日本泌尿器科学会  

A 45-year-old woman with dyspnea and appetite and weight loss was admitted to our hospital. Computed tomography (CT) revealed a right hypovascular renal tumor with tumor thrombus in the inferior vena cava and metastases in the liver, stomach, and left kidney. The renal tumor was diagnosed as a mucinous tubular and spindle cell carcinoma (MTSCC) by pathological examination of a percutaneous needle biopsy specimen. She was treated with temsirolimus (25 mg per week). Five weeks after initiation of this treatment, her liver metastases had clearly decreased in size and her appetite had been restored. However, progressive disease was diagnosed by CT scan revealing expansion of tumor thrombus after 7 weeks, prompting a switch in treatment to axitinib. Approximately 6 months after the diagnosis, she died of cancer. MTSCC is considered to have relative good prognosis, however, many cases with poor prognoses have been reported recently. Our experience with this patient suggests that temsirolimus may be effective treatment for metastatic MTSCC.

DOI： 10.5980/jpnjurol.108.149

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Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：Japanese Society of Gastroenterological Surgery  

DOI： 10.5833/jjgs.2014.0114

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Language：Japanese   Publisher：(一社)日本血液学会-東京事務局  

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Language：Japanese   Publisher：(一社)日本小児血液・がん学会  

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Language：Japanese   Publisher：(一社)日本癌治療学会  

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DOI： 10.1016/j.expneurol.2016.07.011

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DOI： 10.1016/j.clgc.2015.11.013

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DOI： 10.1016/S1470-2045(15)00565-3

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Language：Japanese   Publisher：神奈川県医師会  

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DOI： 10.1002/ccr3.401

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DOI： 10.2169/internalmedicine.55.6297

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DOI： 10.1155/2016/4083183

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DOI： 10.1111/his.12711

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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DOI： 10.1007/s00795-014-0071-2

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Language：Japanese   Publisher：(一社)日本病理学会  

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DOI： 10.5152/tjg.2014.4114

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High serum calcium (Ca) due to aberrant secretion of tumor parathyroid hormone-like hormone (PTHLH) is a well-known paraneoplastic sign and is associated with poor prognosis in patients with renal cell carcinoma (RCC). However, the status of serum Ca and tumor PTHLH expression have not been verified using the 2004 World Health Organization (WHO) renal tumor classification. We retrospectively reviewed corrected serum Ca levels at initial onset (n = 683) and/or as of recurrence (n = 71) in patients with RCC. We also examined a total of 623 renal parenchymal tumor samples for PTHLH mRNA expressions by quantitative real-time PCR. High serum Ca concomitant with PTHLH overexpression in tumors was observed exclusively in clear cell RCC but not in other non clear cell subtype tumors, including papillary, chromophobe, collecting-duct, unclassified, and other rare subtype RCCs or in benign oncocytomas and angiomyolipomas. In clear cell RCC, PTHLH expression was significantly high in male patients, and was associated with a symptomatic presentation, higher grade, and higher stage cases, whereas it was not associated with VHL gene status. Univariate analyses demonstrated that high PTHLH expression was strongly associated with poor outcome both in overall survival (OS) and disease-free survival (DFS) for patients who underwent standard nephrectomy. Further multivariate Cox analyses revealed that the PTHLH expressions remained as independent prognostic parameters for OS but not for DFS. These data suggest that the previously characterized tumor signatures of high serum Ca due to high PTHLH expression and poor prognosis are clear cell RCC-specific features, whereas these characteristics are rare in non clear cell RCCs.

DOI： 10.1002/cam4.270

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publishing type：Research paper (scientific journal)   Publisher：Kyushu University  

DOI： 10.2336/nishinihonhifu.76.92

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：S. Karger AG  

DOI： 10.1159/000360412

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Language：Japanese   Publisher：(一社)日本胆道学会  

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Other Link： https://search.jamas.or.jp/default/link?pub_year=2013&ichushi_jid=J02149&link_issn=&doc_id=20130607100012&doc_link_id=%2Fdw1tando%2F2013%2F002702%2F012%2F0240-0246%26dl%3D0&url=https%3A%2F%2Fwww.medicalonline.jp%2Fjamas.php%3FGoodsID%3D%2Fdw1tando%2F2013%2F002702%2F012%2F0240-0246%26dl%3D0&type=MedicalOnline&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00004_2.gif

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DOI： 10.1111/j.1440-0960.2011.00857.x

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DOI： 10.3174/ajnr.A3159

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Language：English   Publishing type：Research paper (scientific journal)   Publisher：Elsevier Inc.  

DOI： 10.1016/j.gynor.2013.02.005

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DOI： 10.1186/1471-2407-12-118

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Language：Japanese   Publisher：神奈川県医師会  

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DOI： 10.1007/s12149-010-0424-4

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DOI： 10.1186/1752-1947-5-135

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DOI： 10.2169/internalmedicine.50.4386

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DOI： 10.1007/s00795-010-0521-4

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DOI： 10.1093/ndt/gfq323

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DOI： 10.1111/j.1365-2303.2010.00736.x

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DOI： 10.1371/journal.pone.0012105

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DOI： 10.1007/s10120-010-0563-2

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INTRODUCTION: Standard endoscopic mucosal resection or endoscopic submucosal dissection is a procedure for patients with minute cancers, complicated with esophageal varices that puts them at high risk of bleeding. CASE PRESENTATION: We present the case of a 77-year-old Japanese man with alcoholic cirrhosis who underwent a routine endoscopy examination as a screening procedure for esophageal varices and was incidentally diagnosed as having minute cancer of the esophagogastric junction with esophageal varices. Endoscopic ultrasonography findings suggested that the minute cancer was a non-invasive carcinoma (carcinoma in situ) and a 2 mm in diameter blood vessel, feeding the esophageal varices, pierced the lesion. Following the examination, we carried out endoscopic treatment of the minute cancer and esophageal varices. Endoscopic variceal ligation was performed using a pneumo-activated device (Sumitomo Bakelite, Tokyo, Japan). Two years after the treatment, during the follow-up endoscopic examination on the patient, recurrence of carcinoma was not detected endoscopically or histologically. CONCLUSION: Endoscopic therapy using an endoscopic variceal ligation device for minute cancer of the esophagogastric junction, complicated with esophageal varices, may be an acceptable and easily applicable method.

DOI： 10.1186/1752-1947-4-149

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DOI： 10.3892/ol_00000088

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Language：Japanese   Publisher：Japanese College of Surgeons  

Multiple–cancer reports are increasing while combined carcinoid and colorectal carcinoma remain rare.<BR>A 79–year–old man undergoing colonoscopy elsewhere for fecal occult blood was found in September 2007 to have sigmoid colon cancer and a rectal polyp, which was resected. Pathological examination indicated a carcinoid with free margin. The man′s history included severe hypertension, asthoma, paroxysmal atrial fibrillation, and diabetes. He was admitted in February 2008 for swollen lymph nodes detected near the sigmoid colon tumor. Enhanced computed tomography (CT) showed no lung or liver metastases. He underwent sigmoidectomy with D2 lymph node dissection, pathologically shown to be S, tub2, type 2, se, n1. The postoperative course was fair, without complications, and he remains alive with no recurrence 25 months after surgery.

DOI： 10.4030/jjcs.35.193

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Other Link： http://search.jamas.or.jp/link/ui/2010294674

Language：Japanese   Publisher：日本臨床外科学会  

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Language：Japanese   Publisher：医学図書出版(株)  

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DOI： 10.1159/000289584

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DOI： 10.1097/RLU.0b013e3181a34681

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Language：English   Publisher：The Japanese Society for Lymphoreticular Tissue Research  

There are several reports describing [<SUP>18</SUP>F] fluorodeoxyglucose positron emission tomography (FDG-PET) findings in patients with lymphomatoid granulomatosis (LYG). We report a case of grade I LYG that showed increased uptake of FDG. The patient was a 63-year-old Japanese male who underwent an FDG-PET/computed tomography (CT) scan in screening for a malignant lesion. Increased uptake of FDG [maximum standard uptake value (SUV<SUB>max</SUB>), 3.7] was observed in the right hilar region in FDG-PET and enhanced CT revealed a round, abnormal mass that also showed increased FDG uptake. The patient had no previous symptoms. A tumor biopsy was performed and the histological diagnosis was grade I LYG. Therefore, increased SUV<SUB>max</SUB> in FDG-PET might be useful for diagnosing of LYG. [<I>J Clin Exp Hematopathol 49(1) : 39-44, 2009</I>]

DOI： 10.3960/jslrt.49.39

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Other Link： http://search.jamas.or.jp/link/ui/2009344729

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DOI： 10.1001/archoto.2009.27

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DOI： 10.1111/j.1440-1827.2008.02322.x

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DOI： 10.2169/internalmedicine.48.2229

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DOI： 10.2169/internalmedicine.48.2823

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DOI： 10.1186/1752-1947-2-391

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DOI： 10.1111/j.1440-1827.2008.02311.x

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DOI： 10.1007/s00595-008-3788-5

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DOI： 10.1007/s00534-007-1258-x

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DOI： 10.1007/s00595-007-3683-5

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DOI： 10.1097/TP.0b013e31815e9672

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DOI： 10.1159/000127831

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DOI： 10.1159/000127417

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DOI： 10.1007/s00401-007-0264-z

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We report a case of a splenic inflammatory pseudotumor (myofibroblastic tumor) in a 43-year-old man with a 5-year history of chronic bronchitis and sleep apnea syndrome. The patient was hospitalized because of a screen-detected splenic mass lesion. His sputum cultures revealed <I>Mycobacterium avium</I> complexes on only one occasion. Imaging studies revealed a 7 cm solitary tumorous lesion, and differential diagnoses of splenic hamartoma, hemangioma, lymphoma, and angiosarcoma were obtained from the radiologist. A splenectomy followed by pathological investigations was performed. By histology, the lesion contained fibroblastic or myofibroblastic spindle cell proliferations, accompanied by variable degrees of inflammatory cell infiltration. Ziehl-Neelsen staining did not reveal acid-fast bacteria. Immunohistochemically, the fibroblastic or myofibroblastic spindle cells were positive for vimentin, human smooth muscle actin, and muscle actin, but negative for desmin, CD8, CD21, CD23, CD35, p80, Epstein-Barr virus LMP, and human herpesvirus type 8. The infiltrating lymphoid cells demonstrated a nonneoplastic pattern. The results of <I>in situ</I> hybridization for Epstein-Barr virus encoded RNA were negative. The postoperative course was uneventful and he has had no recurrence in 22 months. His sleep apnea syndrome and chronic bronchitis have resolved spontaneously since the splenectomy. [<I>J Clin Exp Hematopathol 47(2) </I><I>: 83</I>-<I>88, 2007</I>]

DOI： 10.3960/jslrt.47.83

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DOI： 10.1097/RLU.0b013e31806541a4

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DOI： 10.1007/s00535-006-1981-0

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Publisher：株式会社医学書院  

DOI： 10.11477/mf.1543101222

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DOI： 10.1248/bpb.29.1564

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DOI： 10.1007/s10165-006-0472-8

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DOI： 10.1016/j.anl.2005.07.004

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DOI： 10.1016/j.prp.2005.12.007

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We have established spontaneously immortalized Schwann cell lines from dorsal root ganglia and peripheral nerves of Sandhoff mice. One of the cell lines exhibited genetically and biochemically distinct features of Sandhoff Schwann cells. The enzyme activities toward 4-methylumbelliferyl N-acetyl-beta-D-glucosamine (beta-hexosaminidases A, B, and S) and 4-methylumbelliferyl N-acetyl-beta-D- glucosamine-6-sulfate (beta-hexosaminidases A and S) were decreased, and GM2 ganglioside accumulated in lysosomes of the cells. Incorporation of recombinant human beta-hexosaminidase isozymes expressed in Chinese hamster ovary cells into the cultured Sandhoff Schwann cells via cation-independent mannose 6-phosphate receptors was found, and the incorporated beta-hexosaminidase A degraded the accumulated GM2 ganglioside. The established Sandhoff Schwann cell line is useful for investigation and development of therapies for Sandhoff disease.

DOI： 10.1007/s10038-005-0278-0

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DOI： 10.1167/iovs.05-0038

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DOI： 10.1111/j.1365-2249.2005.02838.x

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DOI： 10.1111/j.1440-1827.2005.01811.x

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DOI： 10.1111/j.1471-4159.2005.02986.x

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We have established spontaneously immortalized Schwann cell lines from dorsal root ganglia and peripheral nerves of Sandhoff mice. One of the cell lines exhibited genetically and biochemically distinct features of Sandhoff Schwann cells. The enzyme activities toward 4-methylumbelliferyl N-acetyl-beta-D-glucosamine (beta-hexosaminidases A, B, and S) and 4-methylumbelliferyl N-acetyl-beta-D-glucosamine-6-sulfate (beta-hexosaminidases A and S) were decreased, and GM2 ganglioside accumulated in lysosomes of the cells. Incorporation of recombinant human beta-hexosaminidase isozymes expressed in Chinese hamster ovary cells into the cultured Sandhoff Schwann cells via cation-independent mannose 6-phosphate receptors was found, and the incorporated beta-hexosaminidase A degraded the accumulated GM2 ganglioside. The established Sandhoff Schwann cell line is useful for investigation and development of therapies for Sandhoff disease.

DOI： 10.1007/s10038-005-0278-0

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DOI： 10.1177/106689690401200409

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DOI： 10.1097/01.TP.0000137264.99113.2B

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DOI： 10.1016/j.humpath.2004.03.018

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DOI： 10.1172/JCI200419639

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DOI： 10.1097/01.wnr.0000061017.47393.dc

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DOI： 10.1007/s00109-002-0410-y

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DOI： 10.1038/modpathol.3880575

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DOI： 10.1046/j.1365-2990.2002.00366.x

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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J-GLOBAL

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Language：Japanese   Publisher：日本外科系連合学会  

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Other Link： https://search-tp.jamas.or.jp/index.php?module=Default&action=Link&pub_year=2019&ichushi_jid=J01066&link_issn=&doc_id=20190308090009&doc_link_id=10.4030%2Fjjcs.44.49&url=https%3A%2F%2Fdoi.org%2F10.4030%2Fjjcs.44.49&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

Language：Japanese   Publisher：神奈川県医師会  

J-GLOBAL

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J-GLOBAL

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J-GLOBAL

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J-GLOBAL

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J-GLOBAL

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Language：Japanese  

J-GLOBAL

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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J-GLOBAL

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J-GLOBAL

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：(一社)日本皮膚悪性腫瘍学会  

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J-GLOBAL

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J-GLOBAL

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J-GLOBAL

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Language：English   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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J-GLOBAL

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J-GLOBAL

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J-GLOBAL

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Language：Japanese   Publisher：(株)星和書店  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(一社)日本肝臓学会  

DOI： 10.2957/kanzo.58.494

CiNii Books

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Other Link： http://search.jamas.or.jp/link/ui/2017404159

Language：Japanese   Publisher：神奈川県臨床細胞学会  

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Language：Japanese   Publisher：医学図書出版(株)  

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Language：English   Publisher：日本脳腫瘍病理学会  

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Language：Japanese  

J-GLOBAL

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：医学図書出版(株)  

症例1は66歳男性で、経尿道的膀胱腫瘍切除術(TUR-BT)を施行した。膀胱注入療法を計6回施行した。膀胱鏡で膀胱内全体に黄白色の物質が付着し、膀胱粘膜の観察が困難となった。Mycobacterium bovis感染疑いの診断で、イソニアジド+リファンピシン+エタンブトール(INH+RFP+EB)を2ヵ月間、INH+RFPを4ヵ月間投与した。内服1ヵ月後で尿培養は陰性化した。膀胱癌の再発は認めていない。症例2は69歳男性で、TUR-BTを施行した。BCG膀注療法を6回施行し、維持療法を行ったが、頻尿と排尿時痛にて2回で終了した。MRIで前立腺右葉に前立腺癌疑いの所見があり、前立腺針生検+膀胱鏡を施行した。BCG膀注療法に伴う類上皮細胞肉芽腫と診断した。抗結核薬は使用せず対症療法で経過観察中である。膀胱癌の再発は認めていない。症例3は68歳男性で、TUR-BTを施行した。BCG膀注療法を6回、維持療法を2回施行した。排尿時痛が悪化し、MRIはBCG膀注療法後肉芽腫性膀胱炎+前立腺炎疑いの所見であった。現在対症療法で経過観察中である。膀胱癌の再発は認めていない。

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本整形外科学会  

J-GLOBAL

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J-GLOBAL

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J-GLOBAL

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Language：Japanese   Publisher：東日本整形災害外科学会  

J-GLOBAL

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese  

J-GLOBAL

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Web of Science

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：(公社)日本婦人科腫瘍学会  

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Language：Japanese  

CiNii Books

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Other Link： http://search.jamas.or.jp/link/ui/2015275887

Language：Japanese   Publisher：(一社)日本泌尿器科学会総会事務局  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：日本臨床外科学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：(公社)日本臨床細胞学会  

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Language：Japanese   Publisher：一般社団法人日本外科学会  

CiNii Books

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：医学図書出版(株)  

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Language：Japanese   Publisher：日本脳腫瘍病理学会  

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Language：Japanese   Publisher：(一社)日本腎臓学会  

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Language：Japanese   Publisher：(一社)日本病理学会  

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Language：Japanese   Publisher：一般社団法人日本外科学会  

CiNii Books

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Language：Japanese   Publisher：神奈川県医師会  

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Language：Japanese   Publisher：(公社)日本婦人科腫瘍学会