{"title":"SMARCB1-deficient renal medullary carcinoma with an EML4::ALK fusion gene in a Japanese woman.","authors":"Megumi Nobuoka, Tatsuya Mukawa, Mai Iwaya, Shohei Shigeto, Tomonori Minagawa, Takeshi Uehara, Yoshiyuki Akiyama","doi":"10.1111/pin.13494","DOIUrl":"https://doi.org/10.1111/pin.13494","url":null,"abstract":"<p><p>Renal medullary carcinoma is a rare, high-grade carcinoma arising in the renal medulla, which is usually associated with sickle cell trait, and there are very few documented cases in the Japanese population. We report a case of renal medullary carcinoma, immunohistochemically defined as SMARCB1 deficient, in a 67-year-old Japanese woman without a history of sickle cell trait. Somatic mutation of SMARCB1 and an EML4::ALK fusion gene were identified by comprehensive genomic profiling. Computed tomography revealed metastatic lesions in the retrocaval lymph nodes, liver, and bronchus. Six cycles of the dose-dense methotrexate, vinblastine, adriamycin, and cisplatin-combined chemotherapy were completed after an ultrasound-guided percutaneous biopsy of the renal tumor. After chemotherapy, the size of the original tumor in the right kidney had decreased in size, as well as the other metastatic lesions.</p>","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583581","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"GATA3 expression in tumor-infiltrating mononuclear inflammatory cells is associated with poor prognostic factors in tubo-ovarian carcinomas.","authors":"Fatemeh Nili, Elham Mirzaian, Tahereh Doustmohammadi, Somayeh Moradpanah, Fereshteh Ameli, Soheila Sarmadi, Niusha Momeni","doi":"10.1111/pin.13488","DOIUrl":"https://doi.org/10.1111/pin.13488","url":null,"abstract":"<p><p>The study investigated the expression of GATA3, a transcription factor involved in immune regulation, in tubo-ovarian carcinomas and its association with clinicopathological factors and prognosis. Immunohistochemical analysis was performed on 91 tubo-ovarian carcinoma samples to determine the presence of GATA3-positive inflammatory cells in the tumor microenvironment. A threshold of 10% or higher was considered a positive expression. The results showed that 46.7% of tubo-ovarian carcinomas exhibited positive expression of GATA3 in inflammatory cells. There was no significant difference in GATA3 expression between patients who received pre-surgical chemotherapy and those who underwent primary surgery. However, high-grade serous carcinomas had a significantly higher proportion of GATA3-positive inflammatory cells compared to other subtypes. Advanced-stage tumors (stage III) had a higher percentage of GATA3-positive inflammatory cells compared to stage II and I tumors. Patients with positive GATA3 expression had a significantly lower disease-free survival rate. However, there was no significant association between GATA3 expression and chemotherapy response score. These findings suggest that increased expression of GATA3 in mononuclear inflammatory cells is associated with higher grade, advanced stage, and increased risk of recurrence in tubo-ovarian carcinoma. This implies that heightened GATA3 expression negatively impacts anti-tumor immunity, tumor growth progression, and invasiveness in tubo-ovarian carcinomas.</p>","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Ovarian mucinous cystic tumor with an overwhelming fundic gland differentiation.","authors":"Satoe Numakura, Yuko Sasajima, Teppei Morikawa, Takayuki Ichinose, Kazunori Nagasaka, Masahiro Kato, Hiroshi Uozaki","doi":"10.1111/pin.13493","DOIUrl":"https://doi.org/10.1111/pin.13493","url":null,"abstract":"<p><p>An ovarian mucinous cystic tumor where fundic glands were broadly and evenly distributed. All components were FOXA2-positive. The diagnosis is difficult between \"mucinous cystadenoma with fundic gland differentiation\" and \"monodermal cystic teratoma composed of gastric tissue derived from endoderm\".</p>","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142546716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"SMARCB1-deficient malignant neoplasm of the pancreas with heterogeneous morphologies that cannot be classified into existing histologic types.","authors":"Yusuke Kouchi, Nozomu Sakai, Sakurako Harada-Kagitani, Ryotaro Eto, Takashi Mishima, Shigetsugu Takano, Katsuhiro Nasu, Jun-Ichiro Ikeda, Masayuki Ohtsuka, Takashi Kishimoto","doi":"10.1111/pin.13489","DOIUrl":"https://doi.org/10.1111/pin.13489","url":null,"abstract":"<p><p>A 50-year-old male with a pancreatic tail tumor underwent distal pancreatectomy. At 14 and 27 months after the primary surgery, metachronous liver metastases were identified and partial hepatectomies were performed for each. Pathologic findings of the primary pancreatic tumor were heterogeneous, but they essentially categorized into two components based on their cytologic features: (i) clear cell component and (ii) epithelioid cell component. The metastatic hepatic tumor was entirely composed of the epithelioid cell component. SMARCB1 expression was lost by immunohistochemistry and heterozygous deletion of SMARCB1 was identified by fluorescence in situ hybridization for both the primary and metastatic tumors. Targeted DNA sequencing of a metastatic hepatic tumor sample was performed and SMARCB1 loss was identified. Based on the morphologic, immunohistochemical, and molecular analyzes, the present case was difficult to classify into any of the existing entities. SMARCB1 deficiency might play a key role in the tumorigenesis.</p>","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Widespread benign HNF1β-positive solid nests from the urethral diverticulum to the bladder neck: Is it a mesonephric remnant?","authors":"Takahiro Kirisawa, Akiko Miyagi Maeshima, Tomoya Okuno, Ayumu Matsuda, Yoshiyuki Matsui","doi":"10.1111/pin.13486","DOIUrl":"https://doi.org/10.1111/pin.13486","url":null,"abstract":"","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142505502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Regarding to low-grade carcinoma with acinic cell carcinoma-like features of the parotid gland with CRTC3::IQGAP1 fusion.","authors":"Ebtissam Alerraqi","doi":"10.1111/pin.13485","DOIUrl":"https://doi.org/10.1111/pin.13485","url":null,"abstract":"","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142471984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The association between histopathological growth patterns with tumor budding and poorly differentiated clusters in colorectal liver metastasis treated with preoperative systemic therapy.","authors":"Thiyaphat Laohawetwanit, Sompon Apornvirat, Charinee Kantasiripitak","doi":"10.1111/pin.13473","DOIUrl":"10.1111/pin.13473","url":null,"abstract":"<p><p>The liver's unique cellular structure makes it a frequent site for metastatic cancer. In colorectal liver metastasis (CRLM), surgical resection is essential for long-term survival. Histopathological growth patterns (HGPs) in CRLM, including desmoplastic and nondesmoplastic patterns, provide critical prognostic information. Tumor budding (TB) and poorly differentiated clusters (PDCs), indicators of aggressive cancer behavior, are evaluated using standardized histological scoring systems and are linked to epithelial-mesenchymal transition. This study explored the correlation between HGPs, TB, and PDCs in CRLM. Archived data from Thammasat University Hospital, including resected CRLM specimens, were analyzed. This study evaluated 51 CRLM resection specimens treated with preoperative systemic therapy, finding most to be nondesmoplastic with low TB and grade 1 PDC. Desmoplastic growth was significantly more prevalent in cases receiving preoperative chemotherapy than those that did not. Higher 3-year mortality was noted in nondesmoplastic groups and those with higher TB and tumor regression grade (TRG) scores. Significant correlations were observed between HGPs, TB, and PDCs, despite challenges in assessing these parameters due to issues with noncancer cells, extracellular mucin, bile ductular proliferation, and retraction artifacts. This study underscores the prognostic significance of HGPs, TB, PDCs, and TRG scores in CRLM, highlighting the need for precise histopathological evaluation for more accurate prognostic implications.</p>","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Breast cancer during pregnancy of Luminal A type overexpressed CXCL13.","authors":"Fumi Nozaki, Yoko Nakanishi, Tomoyuki Tanino, Tomohiro Ochi, Reika In, Yuka Kajiura, Kumiko Kida, Junko Takei, Atsushi Yoshida, Naoki Kanomata, Atsuko Kitano, Hideko Yamauchi, Shinobu Masuda","doi":"10.1111/pin.13474","DOIUrl":"10.1111/pin.13474","url":null,"abstract":"<p><p>Pregnancy-associated breast cancer has been increasing. In this study, we analyzed patients with breast cancer that occurred during pregnancy (PrBC) and compared their genetic profiles with those of patients with breast cancer that did not occur during pregnancy, within 1 year after childbirth nor during lactation (non-PrBC). We performed gene expression analyses of patients with PrBC and non-PrBC using microarrays and qRT-PCR. Microarray analysis showed that 355 genes were upregulated in the luminal-type PrBC group compared to those in the non-PrBC group. The C-X-C motif chemokine ligand 13 (CXCL13) gene was the most upregulated in the PrBC group compared to that in the non-PrBC group, especially in the luminal A-type (p = 0.016). This result was corroborated by the qRT-PCR analysis of microdissected cancer cells (p < 0.001). A negative correlation was observed between CXCL13 and estrogen receptor 1 (ESR1) mRNA expression levels in luminal A-type breast carcinoma (p < 0.001). Our results provide clues for a better understanding of breast cancer pathogenesis during pregnancy.</p>","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142081178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"New clinicopathological concept of endometrial carcinoma with integration of histological features and molecular profiles.","authors":"Masanori Yasuda","doi":"10.1111/pin.13471","DOIUrl":"10.1111/pin.13471","url":null,"abstract":"<p><p>The dual-stratified pathway of endometrial carcinomas (ECs) has long been dominant. However, in 2013, The Cancer Genome Atlas (TCGA) defined four EC subgroups with distinctive prognoses. Inspired by TCGA, in 2018, the Proactive Molecular Risk Classifier for Endometrial Cancer (ProMisE) provided four pragmatic molecular classifiers to apply surrogate immunohistochemical markers to TCGA subgroup categorization. These trends prompted the revision of 2020 WHO Classification of Female Genital Tumors, 5th edition (2020 WHO classification), in which four molecular subtypes are recognized: POLE-ultramutated; mismatch repair-deficient; p53-mutant; and no specific molecular profile. In the 2020 WHO classification, the diagnostic algorithm is characterized by prioritizing POLEmut over other molecular abnormalities. Following the 2020 WHO classification, Federation of International Gynecology and Obstetrics (FIGO) proposed a new staging system in 2023. The updated system focuses on diagnostic parameters, such as histological type and grade, lymphovascular space invasion, and molecular alterations. These new histomolecular diagnostic concepts of ECs are being accordingly introduced into the routine pathology practice. For the first time, the 2020 WHO classification includes mesonephric-like adenocarcinoma (MLA) as a novel histological entity, mimicking the conventional mesonephric adenocarcinoma, but is considered of Müllerian ductal origin.</p>","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142036602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}