Human Pathology Reports最新文献

Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion

Human Pathology Reports Pub Date : 2025-01-09 DOI: 10.1016/j.hpr.2025.300769

Rayan Sibira , Anna Vu , Ryan Martinez , Emilian Racila , Siddhartha Sen , Diana Oramas

{"title":"Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion","authors":"Rayan Sibira , Anna Vu , Ryan Martinez , Emilian Racila , Siddhartha Sen , Diana Oramas","doi":"10.1016/j.hpr.2025.300769","DOIUrl":"10.1016/j.hpr.2025.300769","url":null,"abstract":"<div><h3>Background</h3><div>Lipoblastoma is a benign tumor arising from embryonic white fat, commonly observed in infancy and early childhood. It manifests in two pathologically identical forms: circumscribed and diffuse. Typically, it is found in the extremities, trunk, and head and neck regions. The genetic hallmark involves clonal rearrangements of the chromosomal region 8q11 > q13 (8q12). The oncogene <em>PLAG1</em> (pleomorphic adenoma gene 1) is situated on band 8q12. <em>PLAG1</em> gene rearrangements have been identified in various lipomatous tumors and, more recently, in a superficial spindle cell lipoma.</div><div>Here, we present the case of a 54-year-old gentleman with a sizable right pleural mass, histologically characterized as a spindle cell lipomatous tumor. Immunohistochemistry revealed diffuse expression of CD34 in spindle cells, mosaic staining of RB1, diffuse positivity for p16, and patchy positivity for desmin, while adipocytes were positive for S100. Remarkably, the next-generation sequencing assay unveiled a previously unreported <em>RUNX1T1::PLAG1</em> fusion, in addition to <em>RB1</em> gene deletion. The patient underwent excision of the right pleural mass. Based on morphology, location, immunohistochemistry, and molecular analysis, this results confirms pleural-based (deep seated) lipomatous tumor with features of lipoblastoma and spindle cell lipoma. This case introduces a unique pleural-based lipomatous tumor with a novel <em>PLAG1</em> fusion partner, associated with <em>RB1</em> gene deletion, further expanding the spectrum of genetic findings within this category of lipogenic neoplasms.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"39 ","pages":"Article 300769"},"PeriodicalIF":0.0,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Occult pleomorphic lobular breast carcinoma presenting exclusively as microangiopathic hemolytic anemia and circulating tumor cells: An autopsy case report

Human Pathology Reports Pub Date : 2024-12-15 DOI: 10.1016/j.hpr.2024.300768

Lo Man Lai , Mercedeh Tajdar , Ann Janssens , Peter Vandenberghe , Gert De Hertogh , Wouter Van Den Bogaert

引用次数: 0

Case of obesity-related glomerulopathy treated by pronounced weight loss by diet and exercise

Human Pathology Reports Pub Date : 2024-12-12 DOI: 10.1016/j.hpr.2024.300765

Hisashi Sugimoto , Naoki Sawa , Yuki Oba , Daisuke Ikuma , Akinari Sekine , Hiroki Mizuno , Masayuki Yamanouchi , Eiko Hasegawa , Tatsuya Suwabe , Kiho Tanaka , Kei Kono , Keiichi Kinowaki , Kenichi Ohashi , Yutaka Yamaguchi , Yoshifumi Ubara

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Superficial CD34-positive fibroblastic tumour with MED12 :: chr4 intergenic :: PRDM10 fusion: A case report

Human Pathology Reports Pub Date : 2024-12-06 DOI: 10.1016/j.hpr.2024.300766

Joey Yan Leng Tan , Lavisha S. Punjabi , Suraya Zainul-Abidin , Jian Yuan Goh , Sathiyamoorthy Selvarajan

{"title":"Superficial CD34-positive fibroblastic tumour with MED12 :: chr4 intergenic :: PRDM10 fusion: A case report","authors":"Joey Yan Leng Tan , Lavisha S. Punjabi , Suraya Zainul-Abidin , Jian Yuan Goh , Sathiyamoorthy Selvarajan","doi":"10.1016/j.hpr.2024.300766","DOIUrl":"10.1016/j.hpr.2024.300766","url":null,"abstract":"<div><div>Superficial CD34-positive fibroblastic tumour (SCPFT) is a rare soft tissue neoplasm of borderline malignancy. It typically presents as a painless, slow-growing, well-circumscribed subcutaneous mass in adults, most commonly in the lower limbs. It is commonly associated with <em>PRDM10</em> rearrangements.</div><div>A 57-year-old lady presented with a left posterior calf lump of 10 years duration. MRI showed a subcutaneous mass measuring 3.9x2.9 cm. Excision showed a moderately cellular tumour composed of spindle cells with eosinophilic cytoplasm arranged in fascicles and a vague storiform pattern. There was multi-focal moderate nuclear atypia, but no necrosis or significant mitotic activity. In some areas, the tumour cells showed lipidized cytoplasm, and focally, a haemosiderotic appearance. It stained diffusely positive for CD34 and WT1, and showed rare positive staining for SMA, S100, MUC4 and EMA. It was negative for desmin, caldesmon, ALK, SOX10, ERG, MNF116 and pan-TRK. Ki67 proliferative index was 3 % to 5 %. Archer FusionPlex Pan-Solid Tumour V2 Next-Generation Sequencing Assay detected a <em>MED12</em> (exon 43) :: chr4 intergenic :: <em>PRDM10</em> (exon 14) gene fusion. The surgical margins were positive for tumour, hence a repeat MRI was performed which showed changes indeterminate for post-surgical changes or small residual focus. There was no recurrence at 1 year follow-up.</div><div><em>PRDM10</em> rearrangements have been reported in SCPFT. Fusion partners include <em>MED12</em>. To our understanding, this is the first case of SCPFT harboring a three-way fusion that includes the intergenic region of chromosome 4 – its impact remains uncertain.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"39 ","pages":"Article 300766"},"PeriodicalIF":0.0,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Gynecologic and breast cancers with hereditary cancer predisposition syndromes 具有遗传性癌症易感综合征的妇科和乳腺癌

Human Pathology Reports Pub Date : 2024-11-01 DOI: 10.1016/j.hpr.2024.300764

Courtney F. Connelly , Sudarshana Roychoudhury , Yan Peng , Hua Guo , Roshni Rao

{"title":"Gynecologic and breast cancers with hereditary cancer predisposition syndromes","authors":"Courtney F. Connelly , Sudarshana Roychoudhury , Yan Peng , Hua Guo , Roshni Rao","doi":"10.1016/j.hpr.2024.300764","DOIUrl":"10.1016/j.hpr.2024.300764","url":null,"abstract":"<div><div>Approximately 20–25% of ovarian cancers, 5–10% of uterine cancers, and 5–10% of breast cancers are attributable to inherited pathogenic genetic alterations. Identifying characteristic germline mutations is crucial for patient management, as appropriate surveillance and further surgical interventions for risk-reduction may be considered in such groups. Hereditary breast and ovarian syndrome (HBOC) are characterized by inherited pathogenic germline mutations, the majority of which are attributable to pathogenic <em>BRCA1</em> or <em>BRCA2</em> variants, among many other genes including <em>MMR</em> genes, <em>TP53</em>, <em>PTEN</em>, <em>PALB2</em>, <em>ATM</em> and <em>BARD1</em>, etc<strong><em>.</em></strong> These cases often have distinctive morphological and immunohistochemical characteristics, which when recognized by the pathologist may encourage further genetic consultation and testing for the patient. BRCA1/2-associated carcinomas display more aggressive pathologic features than their sporadic counterparts. High-grade serous carcinoma is the most predominant type of ovarian neoplasm in BRCA1/2 variant-associated cases, with often solid, pseudo-endometrioid, or transitional (SET) morphologic pattern. BRCA1-associated breast cancer more frequently exhibits a medullary pattern with prominent tumor infiltrating lymphocytes (TILs) and a triple-negative phenotype. BRCA2-associated tumors in comparison have a more heterogenous histologic phenotype. This article reviews the histopathologic features of hereditary gynecologic and breast cancer syndromes and discusses surveillance and surgical considerations for these patients.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"38 ","pages":"Article 300764"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Updates and challenges in diagnostic cytopathology: Exploring current advances and future perspectives

Human Pathology Reports Pub Date : 2024-11-01 DOI: 10.1016/j.hpr.2024.300757

Xiaoying Liu, Xin Jing, Zhongren Zhou

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Between ‘NET’ and ‘CoGNET’: A biphasic Neuroendocrine-Gangliocytic tumor of the pancreas 介于 "NET "和 "CoGNET "之间：胰腺双相神经内分泌-神经节细胞肿瘤

Human Pathology Reports Pub Date : 2024-10-08 DOI: 10.1016/j.hpr.2024.300763

Binny Khandakar , Moreen Ng , Laura Baum , Marie E. Robert

{"title":"Between ‘NET’ and ‘CoGNET’: A biphasic Neuroendocrine-Gangliocytic tumor of the pancreas","authors":"Binny Khandakar , Moreen Ng , Laura Baum , Marie E. Robert","doi":"10.1016/j.hpr.2024.300763","DOIUrl":"10.1016/j.hpr.2024.300763","url":null,"abstract":"<div><div>While neuroendocrine tumors of the pancreas are increasing in incidence, neural derived tumors are only rarely found in this organ. Paragangliomas, neuronal and nerve sheath tumors of the pancreas are limited to small series or case reports. The newly named composite gangliocytoma/neuroma and neuroendocrine tumor (CoGNET), formerly gangliocytic paraganglioma, occurs almost exclusively in the second part of the duodenum and periampullary region but has been reported in the pancreas. At the time of this writing four pancreatic CoGNETs have been reported in the pancreatic head, ranging in size from 2.2 to 5.3 cm; three in females, with a mean age of 63 years (range, 50–74 years). Herein, we report the clinico-pathologic findings of a 58-year-old male presenting with a low-grade neuroendocrine tumor showing focal gangliocytic differentiation within the head of pancreas that does not fit precisely into existing tumor classifications, having some but not all elements of CoGNET. The morphology and immunohistochemical profile of the tumor are presented in the context of the differential diagnosis and prior literature.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"38 ","pages":"Article 300763"},"PeriodicalIF":0.0,"publicationDate":"2024-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142428190","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Comparative study of hematological parameters among smokers and nonsmokers in Basra city, Iraq 伊拉克巴士拉市吸烟者与非吸烟者血液学参数比较研究

Human Pathology Reports Pub Date : 2024-09-17 DOI: 10.1016/j.hpr.2024.300762

Safa Mohammed Hussein, Huda Hasan Aziz, Wurood Hameed Abed, Kadhim Fadhil Kadhim

{"title":"Comparative study of hematological parameters among smokers and nonsmokers in Basra city, Iraq","authors":"Safa Mohammed Hussein, Huda Hasan Aziz, Wurood Hameed Abed, Kadhim Fadhil Kadhim","doi":"10.1016/j.hpr.2024.300762","DOIUrl":"10.1016/j.hpr.2024.300762","url":null,"abstract":"<div><h3>Background</h3><p>Hematological parameters are significantly affected by both immediate and prolonged exposure to smoking. The objective of this investigation is to evaluate the influence of cigarette smoking on hematological parameters among male students enrolled at Basrah University in Iraq.</p></div><div><h3>Methods</h3><p>The study comprised a total of seventy male participants, divided into two groups: smokers (n = 35) and nonsmokers (n = 35). Each participant provided a 5 ml venous blood sample to analyze the complete blood count using a hematology analyzer (Spinreact, Spincell 3).</p></div><div><h3>Results</h3><p>Cigarette smokers exhibit notably elevated levels of Red Blood Cells (RBC) counts, Hemoglobin (HGB), Red Cell Distribution Width-CV (RDW-CV), granulocytes%, and platelets%, whereas Mean Corpuscular Volume (MCV) and lymphocytes% are notably lower among smokers. On the other hand, Hematocrit percentage (HCT), Mean Corpuscular Hemoglobin (MCH), Mean Corpuscular Hemoglobin Concentration (MCHC), and White Blood Cells (WBC) counts show no significant difference between cigarette smokers and nonsmokers. In contrast, Red Cell Distribution Width-SD (RDW-SD), Mid-range cell percentage (MID%), Mean Platelet Volume (MPV), Distribution Width (PDW), Platelet Plateletcrit percentage (PCT), Platelet-Lymphocyte Cell Ratio (P_LCR) and Platelet-Lymphocyte Cell Count (P_LCC) demonstrate no substantial variance between the two groups at the statistical significance threshold.</p></div><div><h3>Conclusion</h3><p>This investigation concludes that tobacco cigarette smoking leads to detrimental alterations in hematological parameters, posing health risks.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"38 ","pages":"Article 300762"},"PeriodicalIF":0.0,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X24000343/pdfft?md5=8d0ae631b7e687a2a514bc1ef9c7b3db&pid=1-s2.0-S2772736X24000343-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142241515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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First description of a primary SMARCA4-deficient carcinoma of the salivary glands 首次描述原发性 SMARCA4 缺失的唾液腺癌

Human Pathology Reports Pub Date : 2024-09-10 DOI: 10.1016/j.hpr.2024.300761

David Oestreicher , Irina Kostyuchek , Philipp Ströbel , Dirk Beutner , Tobias Dombrowski

{"title":"First description of a primary SMARCA4-deficient carcinoma of the salivary glands","authors":"David Oestreicher , Irina Kostyuchek , Philipp Ströbel , Dirk Beutner , Tobias Dombrowski","doi":"10.1016/j.hpr.2024.300761","DOIUrl":"10.1016/j.hpr.2024.300761","url":null,"abstract":"<div><p>SMARCA4-deficient neoplasms have been identified in several organs, including the lung, thorax, esophagus and ovary. In some cases, SMARCA4-deficient neoplasms are associated with specific histologic subtypes, such as small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). These tumors are often high-grade and aggressive, with a propensity for early metastasis and poor prognosis. SMARCA4 (also known as BRG1) is a chromatin-remodeling protein that plays an important role in gene expression regulation. SMARCA4 loss results in altered expression of cell cycle regulators and DNA damage response genes, leading to genomic instability and oncogenesis. We describe the first clinical case of a SMARCA4-deficient carcinoma of the salivary glands, found in a rapidly growing parotid lesion<u>.</u> Initially, the tumor had ipsilateral cervical lymph node metastases without any distant metastases. After tumor surgery with total parotidectomy and neck dissection on the left side, adjuvant radiotherapy was performed. Shortly after completion of radiotherapy, re-staging by a CT scan showed metastases at multiple sites. Immunotherapy with a PDL1 inhibitor and additional palliative radiotherapy for the bony metastases was then initiated.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"38 ","pages":"Article 300761"},"PeriodicalIF":0.0,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X24000331/pdfft?md5=575807af1b90e6856858c6708552dbc8&pid=1-s2.0-S2772736X24000331-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142163850","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Diagnosis of Urinothorax: A rare Complication of Percutaneous nephrolithotomy and literature review 尿气胸的诊断：经皮肾取石术的罕见并发症及文献综述

Human Pathology Reports Pub Date : 2024-09-01 DOI: 10.1016/j.hpr.2024.300760

Chiara Cocelli , Shuyue Ren

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