Human Pathology Reports最新文献_第4页

Sex cord-like elements in Müllerian lesions: Report of two rare cases and review of the literature <s:1>勒氏菌病变中的性索样成分：两例罕见病例报告及文献复习

Human Pathology Reports Pub Date : 2025-11-01 Epub Date: 2025-10-07 DOI: 10.1016/j.hpr.2025.300799

Bahadir Yildiz , Huina Zhang , Jamie Linn McDowell , Hani Katerji , Sharlin Varghese , Xi Wang

引用次数: 0

Low-grade endometrial stroma-like sarcoma with smooth-muscle-like differentiation, DOG1 expression and JAZF1::SUZ12 fusion in a male patient 1例男性低级别子宫内膜间质样肉瘤伴平滑肌样分化、DOG1表达及JAZF1::SUZ12融合

Human Pathology Reports Pub Date : 2025-11-01 Epub Date: 2025-11-25 DOI: 10.1016/j.hpr.2025.300808

Pierre Allaume , Louis Escuer , Sébastien Henno , Aude Merdrignac , Cyrille Berra , Frédéric Dugay , François Le Loarer , Solène-Florence Kammerer-Jacquet , Francisco Llamas-Gutierrez

{"title":"Low-grade endometrial stroma-like sarcoma with smooth-muscle-like differentiation, DOG1 expression and JAZF1::SUZ12 fusion in a male patient","authors":"Pierre Allaume , Louis Escuer , Sébastien Henno , Aude Merdrignac , Cyrille Berra , Frédéric Dugay , François Le Loarer , Solène-Florence Kammerer-Jacquet , Francisco Llamas-Gutierrez","doi":"10.1016/j.hpr.2025.300808","DOIUrl":"10.1016/j.hpr.2025.300808","url":null,"abstract":"<div><div>Low-grade endometrial stromal sarcoma (LG-ESS) is an uncommon mesenchymal tumor typically arising in the uterine corpus, but has been rarely described in men. We present a case of a molecularly confirmed LG-ESS in a 60-year-old male patient, presenting as a pelvic mass with oligo-symptoms. The core-needle tumor sample demonstrated histological features of a low-grade fusocellular tumor with partial smooth muscle differentiation, strongly positive for smooth muscle actin and desmin, and weak DOG1 expression. Molecular analysis identified a JAZF1::SUZ12 gene fusion, akin to LG-ESS. This case underscores the potential challenge of diagnosing LG-ESS in men, where differential diagnoses include other tumors of mesenchymal origin such as gastrointestinal stromal tumors (GISTs) and solitary fibrous tumors, among others. As DOG1 expression in LG-ESS hasn’t been reported in the literature yet, we retrospectively performed DOG1 immunohistochemistry of eight cases LG-ESS in women, finding DOG1 expression in 50% of cases with a weak and heterogeneous pattern. This novel finding highlights a potential pitfall in the diagnosis of LG-ESS especially in men, and warrants further investigations.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"42 ","pages":"Article 300808"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145617746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IL-4/JAK/STAT6 pathway activation in follicle center lymphoma of the lower female genital tract: A case report IL-4/JAK/STAT6通路在女性下生殖道滤泡中心淋巴瘤中的激活：1例报告

Human Pathology Reports Pub Date : 2025-11-01 Epub Date: 2025-11-14 DOI: 10.1016/j.hpr.2025.300805

Takumi Kitaoka , Akira Satou , Eiichi Kitamura , Keiko Aizawa , Takeshi Sudo , Madoka Abe , Takanobu Kabasawa , Kazushi Suzuki , Naoya Uchiyama , Rintaro Ohe

{"title":"IL-4/JAK/STAT6 pathway activation in follicle center lymphoma of the lower female genital tract: A case report","authors":"Takumi Kitaoka , Akira Satou , Eiichi Kitamura , Keiko Aizawa , Takeshi Sudo , Madoka Abe , Takanobu Kabasawa , Kazushi Suzuki , Naoya Uchiyama , Rintaro Ohe","doi":"10.1016/j.hpr.2025.300805","DOIUrl":"10.1016/j.hpr.2025.300805","url":null,"abstract":"<div><div>Follicle center lymphoma (FCL) of the lower female genital tract (LFGT) is a recently proposed subtype of B-cell lymphoma that resembles primary cutaneous follicle center lymphoma. Although targeted next-generation sequencing (NGS) studies have identified recurrent <em>TNFRSF14</em> mutations in FCL of the LFGT, its broader mutational landscape remains largely uncharacterized. We report a case of FCL of the LFGT in a woman in her 40s presenting with a cervical tumor. Histological examination revealed a predominantly diffuse proliferation of CD20<sup>+</sup>, CD79a<sup>+</sup>, BCL6<sup>+</sup>, HGAL<sup>+</sup>, CD23<sup>+</sup>, and BCL2<sup>−</sup> atypical lymphocytes, consistent with a centrocytic phenotype. Numerous T follicular helper cells were observed in the background of the lesion. Whole-exome sequencing identified 1,336 coding variants. After filtering based on tumor cell content and CADD phred score (≥20), 125 variants were retained, including a nonsense mutation in <em>TNFRSF14</em> and missense mutations in <em>IL4R</em> and <em>SOCS3</em>. The <em>TNFRSF14</em> mutation may contribute to the accumulation and activation of T follicular helper cells by disrupting the inhibitory HVEM–BTLA signaling pathway. In addition, <em>IL4R</em> and <em>SOCS3</em> mutations may lead to upregulation of the IL-4/JAK/STAT6 pathway, promoting tumor cell survival and proliferation. These findings provide new insights into the molecular pathogenesis of FCL of the LFGT.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"42 ","pages":"Article 300805"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145520076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel association of CHEK2 mutation in gastrointestinal stromal tumor: A case report and literature review CHEK2突变与胃肠道间质瘤的新关联：1例报告和文献复习

Human Pathology Reports Pub Date : 2025-11-01 Epub Date: 2025-09-11 DOI: 10.1016/j.hpr.2025.300794

Trevor T Hu , Joyce Pazhyattil , Allison M. Richman , Kathryn Henderson , Darren Groh , Ahmed F. Abdulrahim

{"title":"Novel association of CHEK2 mutation in gastrointestinal stromal tumor: A case report and literature review","authors":"Trevor T Hu , Joyce Pazhyattil , Allison M. Richman , Kathryn Henderson , Darren Groh , Ahmed F. Abdulrahim","doi":"10.1016/j.hpr.2025.300794","DOIUrl":"10.1016/j.hpr.2025.300794","url":null,"abstract":"<div><div>Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, typically driven by mutations inor <em>CHEK2</em>   <em>CHEK2</em>  <em>CHEK2</em>   <em>CHEK2</em>  <em>CHEK2</em>  <em>CHEK2</em>  <em>CHEK2</em> <!-->mutation with GIST, expanding the known genetic landscape of this tumor. Further studies are necessary to elucidate the implications of this mutation in GIST pathophysiology and treatment.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"42 ","pages":"Article 300794"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145049902","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pediatric colonic basidiobolomycosis masquerading as cancer: diagnostic challenges in a resource-limited setting-a two case report and literature review 伪装成癌症的儿童结肠担子孢子菌病：在资源有限的环境下的诊断挑战——两例报告和文献综述

Human Pathology Reports Pub Date : 2025-11-01 Epub Date: 2025-11-26 DOI: 10.1016/j.hpr.2025.300807

Ismail Mohamoud Abdullahi

{"title":"Pediatric colonic basidiobolomycosis masquerading as cancer: diagnostic challenges in a resource-limited setting-a two case report and literature review","authors":"Ismail Mohamoud Abdullahi","doi":"10.1016/j.hpr.2025.300807","DOIUrl":"10.1016/j.hpr.2025.300807","url":null,"abstract":"<div><div>Colonic basidiobolomycosis is a rare fungal infection caused by Basidiobolus ranarum, usually affecting immunocompetent individuals and often mimicking colorectal carcinoma or inflammatory bowel disease. We report a two case report in Somalia who initially presented with abdominal pain, weight loss, and mass-like colonic lesions, both initially suspected to have colorectal cancer based on clinical presentation and imaging. Diagnostic confirmation was achieved Postoperatively through histological evaluation with special stains by demonstrating granulomatous inflammation rich in eosinophils and fungal hyphae surrounded by Splendore–Hoeppli material. Both patients underwent surgical intervention followed by antifungal therapy with itraconazole, showing favorable postoperative outcomes and no recurrence during 12–14 months of follow-up. This report highlights colonic basidiobolomycosis as an under-recognized mimic of malignancy, emphasizing the importance of early histopathological evaluation and clinical awareness in resource-limited settings to avoid misdiagnosis, unnecessary surgery, and associated morbidity. A narrative literature review was also conducted to contextualize our findings.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"42 ","pages":"Article 300807"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145617745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multiple pulmonary spindle cell hemangiomas with IDH1 mutation in Maffucci syndrome Maffucci综合征多发肺梭形细胞血管瘤伴IDH1突变

Human Pathology Reports Pub Date : 2025-11-01 Epub Date: 2025-09-15 DOI: 10.1016/j.hpr.2025.300796

Daffolyn Rachael Fels Elliott , Kavya Nataraj , Melissa B. Carroll , Rashna Madan , Benjamin C. Powers

{"title":"Multiple pulmonary spindle cell hemangiomas with IDH1 mutation in Maffucci syndrome","authors":"Daffolyn Rachael Fels Elliott , Kavya Nataraj , Melissa B. Carroll , Rashna Madan , Benjamin C. Powers","doi":"10.1016/j.hpr.2025.300796","DOIUrl":"10.1016/j.hpr.2025.300796","url":null,"abstract":"<div><div>Maffucci syndrome is characterized by multiple enchondromas and vascular lesions including spindle cell hemangiomas that typically arise in cutaneous or soft tissue of the extremities. The pathogenesis involves sporadic mutations in <em>IDH1/2</em> genes that occur early during embryogenesis leading to mosaicism in affected tissues. The prognosis is variable in Maffucci syndrome, and patients have an increased risk of developing malignancies. We present a rare case of multiple spindle cell hemangiomas of the lung in a 41-year-old woman with Maffucci syndrome. She was found to have numerous lung nodules that were slowly progressive on surveillance CT imaging. The radiologic differential diagnosis included diffuse neuroendocrine cell hyperplasia (DIPNECH) with multiple carcinoid tumors and pulmonary metastases. A diagnosis of spindle cell hemangiomas was made following surgical lung wedge biopsy, and PCR detected an <em>IDH1</em> mutation in codon 132. Annual surveillance whole body and brain MRI showed no new or enlarging lesions one year after her lung biopsy. In conclusion, spindle cell hemangiomas are a rare cause of pulmonary nodules and may arise in the setting of Maffucci syndrome. The lungs are a common site of metastasis from malignancies associated with Maffucci syndrome, but other entities should be kept in the differential diagnosis and may require biopsy for definitive diagnosis.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"42 ","pages":"Article 300796"},"PeriodicalIF":0.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145097342","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IDH1 mutated prostate cancer with psammomatous calcifications: A case report and review of the literature IDH1突变前列腺癌伴沙质钙化：1例报告及文献复习

Human Pathology Reports Pub Date : 2025-11-01 Epub Date: 2025-10-12 DOI: 10.1016/j.hpr.2025.300800

D.A. Gaskin , A. Reid , N. Depeiza , J. Nebhnani , P.S. Gaskin

引用次数: 0

Oral malignant melanoma with colon metastasis mimicking melanosis coli: Case report 口腔恶性黑色素瘤伴结肠转移样大肠黑素病1例报告

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-07-07 DOI: 10.1016/j.hpr.2025.300784

Noura El Sayegh, Firas Kreidieh, Ghazi Zaatari, Najla Fakhruddin

引用次数: 0

Mullerian adenosarcoma-like tumor arising from an extragonadal germ cell tumor: Case Report and Literature Review 由腺外生殖细胞肿瘤引起的缪勒氏腺肉瘤样肿瘤：病例报告及文献复习

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-07-09 DOI: 10.1016/j.hpr.2025.300782

Pauline Biesemans , Marcella Baldewijns , Steven Joniau , Tim Van Assche , Marc Claessens , Robert Hente , Wies Vanderbruggen , Wim Volders , Anne-Sophie Van Rompuy

{"title":"Mullerian adenosarcoma-like tumor arising from an extragonadal germ cell tumor: Case Report and Literature Review","authors":"Pauline Biesemans , Marcella Baldewijns , Steven Joniau , Tim Van Assche , Marc Claessens , Robert Hente , Wies Vanderbruggen , Wim Volders , Anne-Sophie Van Rompuy","doi":"10.1016/j.hpr.2025.300782","DOIUrl":"10.1016/j.hpr.2025.300782","url":null,"abstract":"<div><div>Extragonadal germ cell tumors (GCTs) are rare neoplasms, accounting for 1–5 % of all germ cell tumors. Mixed germ cell tumors are neoplasms with more than one GCT component. The majority of somatic-type malignancies arising in testicular GCTs originate from the teratomatous component of a mixed GCT.</div><div>We present a 43-year old man with a history of recurring retroperitoneal teratoma. Initially the patient was diagnosed with a retroperitoneal mixed germ cell tumor with an embryonal carcinoma component and a cystic mature teratoma component in 2001. The patient received neoadjuvant cisplatin-based chemotherapy, followed by surgical resection. He had several recurrences of the teratoma component in 2004, 2014 and the emergence of a somatic-type malignancy in 2023. Microscopic examination in 2023 revealed a biphasic tumor with malignant stromal overgrowth and a characteristic phyllodes-like pattern, leading to the diagnosis of Müllerian adenosarcoma-like tumor. To the best of our knowledge, this is the first reported case of Müllerian adenosarcoma-like tumor arising in an extragonadal teratoma.</div><div>This case expands the spectrum of somatic-type malignancies arising in extragonadal GCTs and emphasizes the importance of long-term surveillance. Extragonadal GCTs are rare and gonadal origin should always be excluded by imaging. Our case also brings awareness to the growing teratoma syndrome where residual teratomas persist or enlarge post-chemotherapy. Because of its extremely low incidence, Müllerian adenosarcoma in males should be studied further to determine the prognosis and best treatment options.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300782"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144589279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hepatosplenic T-cell lymphoma, αβ type, presenting in an elderly patient status post indolent B-cell lymphoma treatment: report of a case and review of the literature 肝脾t细胞淋巴瘤，αβ型，在惰性b细胞淋巴瘤治疗后出现在老年患者状态：1例报告并文献复习

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-08-22 DOI: 10.1016/j.hpr.2025.300789

Rodolfo Garza-Morales , Isabela Wen-Chi Chang , Allison Rosenthal , Jiehao Zhou

引用次数: 0