Human Pathology Reports最新文献

{"title":"Case of obesity-related glomerulopathy treated by pronounced weight loss by diet and exercise","authors":"Hisashi Sugimoto ,&nbsp;Naoki Sawa ,&nbsp;Yuki Oba ,&nbsp;Daisuke Ikuma ,&nbsp;Akinari Sekine ,&nbsp;Hiroki Mizuno ,&nbsp;Masayuki Yamanouchi ,&nbsp;Eiko Hasegawa ,&nbsp;Tatsuya Suwabe ,&nbsp;Kiho Tanaka ,&nbsp;Kei Kono ,&nbsp;Keiichi Kinowaki ,&nbsp;Kenichi Ohashi ,&nbsp;Yutaka Yamaguchi ,&nbsp;Yoshifumi Ubara","doi":"10.1016/j.hpr.2024.300765","DOIUrl":"10.1016/j.hpr.2024.300765","url":null,"abstract":"<div><div>We experienced a 46-year-old man with rapidly declining renal function over the past 5 years. By strict diet and exercise regimen, he reduced his body mass index (BMI) from 35.1 to 24.8 over 15 months, which prevented the progression of renal dysfunction for the next 10 years. Kidney biopsy showed focal segmental glomerulosclerosis (FSGS) corresponding to obesity-related glomerulopathy. Besides suppressing the progression of renal function decline, resolution of the significant obesity reduced proteinuria and improved blood pressure control. We concluded that obesity itself caused FSGS, probably via hyperfiltration, which caused refractory hypertension and triggered proteinuria, resulting in renal function decline.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"39 ","pages":"Article 300765"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143145397","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}

{"title":"Pleura-Based Lipomatous Neoplasm with RUNX1T1::PLAG1 Rearrangement and RB1 Gene Deletion","authors":"Rayan Sibira ,&nbsp;Anna Vu ,&nbsp;Ryan Martinez ,&nbsp;Emilian Racila ,&nbsp;Siddhartha Sen ,&nbsp;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 &gt; 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":"2025-03-01","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}

{"title":"First description of a primary SMARCA4-deficient carcinoma of the salivary glands","authors":"David Oestreicher ,&nbsp;Irina Kostyuchek ,&nbsp;Philipp Ströbel ,&nbsp;Dirk Beutner ,&nbsp;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":"2024-11-01","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}

{"title":"Between ‘NET’ and ‘CoGNET’: A biphasic Neuroendocrine-Gangliocytic tumor of the pancreas","authors":"Binny Khandakar ,&nbsp;Moreen Ng ,&nbsp;Laura Baum ,&nbsp;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":"2024-11-01","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}

{"title":"Comparative study of hematological parameters among smokers and nonsmokers in Basra city, Iraq","authors":"Safa Mohammed Hussein,&nbsp;Huda Hasan Aziz,&nbsp;Wurood Hameed Abed,&nbsp;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":"2024-11-01","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}

{"title":"Gynecologic and breast cancers with hereditary cancer predisposition syndromes","authors":"Courtney F. Connelly ,&nbsp;Sudarshana Roychoudhury ,&nbsp;Yan Peng ,&nbsp;Hua Guo ,&nbsp;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}

{"title":"Updates and challenges in diagnostic cytopathology: Exploring current advances and future perspectives","authors":"Xiaoying Liu,&nbsp;Xin Jing,&nbsp;Zhongren Zhou","doi":"10.1016/j.hpr.2024.300757","DOIUrl":"10.1016/j.hpr.2024.300757","url":null,"abstract":"","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"38 ","pages":"Article 300757"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143156438","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}

{"title":"Epithelial tumors of the ovary: A review focusing on carcinoma and recent advances","authors":"Andrew Sciallis,&nbsp;Gloria Zhang","doi":"10.1016/j.hpr.2024.300749","DOIUrl":"10.1016/j.hpr.2024.300749","url":null,"abstract":"<div><p>Ovarian carcinoma includes a wide variety of entities and appropriate subclassification is one of the chief goals in diagnostic gynecologic pathology. Over the years, several new entities have been added to the list of ovarian carcinomas. Moreover, recent advances in the pathogenesis of newer and “older” types of ovarian carcinoma have allowed for the development of ancillary studies that are important in both the subclassification and prognostication. The surgical pathologist must assimilate these new discoveries in ovarian carcinoma in addition to refining their morphology-based diagnostic skillset. The purpose of this review article is to provide an overview of specific genetic factors, clinical disease states, and microscopic queues that are important in the subclassification of ovarian carcinoma.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"37 ","pages":"Article 300749"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X24000215/pdfft?md5=c66bb6d59f59fdde70c3e6935d254d01&pid=1-s2.0-S2772736X24000215-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141950098","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}

{"title":"Comparative study of cemento-ossifying fibroma and focal cemento-osseous dysplasia in the jaw – 15 year retrospective inquiry and literature review","authors":"Jiejing Yin,&nbsp;Yekaterina Belogrivtseva,&nbsp;Ahmed Lazim,&nbsp;Samir Amer,&nbsp;Dina Zenezan,&nbsp;Riya Kuklani,&nbsp;Daniela Proca","doi":"10.1016/j.hpr.2024.300748","DOIUrl":"https://doi.org/10.1016/j.hpr.2024.300748","url":null,"abstract":"<div><h3>Background</h3><p>Cemento-ossifying fibroma (COF) and focal cemento-osseous dysplasia (FCOD) are benign neoplasms occurring in the mandible and maxilla; histologically, they both show normal bone replacement by a fibrous stroma containing variable amounts of calcified fragments resembling bone and cementum. FCOD is relatively common and requires observation; COF is rare and its growth over time can lead to deformity in the head and neck region. Surgical removal of COF at an early stage is critical to prevent recurrence and deformity. Therefore, distinguishing COF from FCOD is important for proper further management.</p></div><div><h3>Methods and Materials</h3><p>To determine the parameters differentiating COF from FCOD, we retrospectively analyzed 15 COF cases and 27 FCOD cases reviewed between 2005 and 2020 at Temple University Hospital. Demographic, radiographic and histopathologic characteristics were compared by using Student’s <em>t</em> test for continuous variables and Chi-square test for categorical variables.</p></div><div><h3>Results</h3><p>In the non-histopathologic spectrum, COF occurred at a younger age (average age-31yo versus FCOD 43 yo). FCOD showed female predilection compared with COF. No significant difference was observed regarding location and radiographic density. However, COF was significantly associated with radiographic cortical expansion. In the histopathologic spectrum, FCOD was more frequently associated with significant intralesional hemorrhage, increased vascularity, osteoblastic rimming of trabeculae, and ginger roots –like bone trabeculae.</p></div><div><h3>Discussion</h3><p>We demonstrated 7 clinical, radiographic, and pathologic parameters that can help differentiate COF from FCOD. Comprehensive assessment of the distinguishing characteristics is valuable for accurate diagnosis and treatment of these two entities, aiding in minimizing unnecessary procedures for FCOD and averting facial deformities caused by COF.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"37 ","pages":"Article 300748"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X24000203/pdfft?md5=e7c1720a31785b266e57a7d4311b7fbd&pid=1-s2.0-S2772736X24000203-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141596023","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}

{"title":"Kikuchi-Fujimoto disease in the regional lymph nodes in a patient with concurrent malignant phyllodes tumour","authors":"Ciara Murray ,&nbsp;Rosemarie Tremblay-LeMay ,&nbsp;Jan Delabie ,&nbsp;Andrea Covelli ,&nbsp;Susan J. Done","doi":"10.1016/j.hpr.2024.300750","DOIUrl":"10.1016/j.hpr.2024.300750","url":null,"abstract":"<div><p>Kikuchi-Fujimoto disease (KFD, histiocytic necrotizing lymphadenitis) is a rare, benign disease in which the presenting clinical and radiological features often result in misclassification as a malignant process. We present the first report of concurrent KFD in the draining lymph nodes of a malignant phyllodes tumour, adding to the growing number of reports of KFD occurring in the context of malignancy, further compounding the existing diagnostic difficulties. An increased awareness of this condition with consideration for inclusion in the differential diagnosis of lymphadenopathy is required for improved diagnosis of this under-recognized entity.</p></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"37 ","pages":"Article 300750"},"PeriodicalIF":0.0,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772736X24000227/pdfft?md5=22295563562d1b833881a19defa8b06a&pid=1-s2.0-S2772736X24000227-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141961117","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}