Human Pathology Reports最新文献

Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury

Human Pathology Reports Pub Date : 2025-04-03 DOI: 10.1016/j.hpr.2025.300774

Ejas Palathingal Bava , Sharon Skorupski , Edward Peres , Pegah Dejban , Qing Chang , Brian Theisen , Sanam Husain

{"title":"Suspected late graft failure and graft versus host disease 34 years after hematopoietic stem cell transplantation clinically and pathologically presenting as host versus graft disease with liver injury","authors":"Ejas Palathingal Bava , Sharon Skorupski , Edward Peres , Pegah Dejban , Qing Chang , Brian Theisen , Sanam Husain","doi":"10.1016/j.hpr.2025.300774","DOIUrl":"10.1016/j.hpr.2025.300774","url":null,"abstract":"<div><div>A 36-year-old man who underwent hematopoietic stem cell transplantation (HSCT) at the age of 2 years for severe combined immunodeficiency, presented with jaundice, skin rash, and elevated liver function tests 34 years after HSCT. Liver biopsy showed bile duct injury and cholestasis. Viral studies, autoimmune panel, review of medications, and imaging did not establish a cause of liver injury. However, graft-versus-host disease <strong>(</strong>GVHD) was unlikely because of the remote history of HSCT. Short tandem repeat-polymerase chain reaction (STR-PCR) chimerism analysis showed that the percentage of donor DNA in the liver biopsy specimen was very low (11 %); hence, host-versus-graft disease (HVGD) was implicated. Because STR analysis of patient’s blood showed a mixed chimera with 11 % donor DNA, graft failure was suspected; however, fractionated STR analysis ruled out complete graft failure. Overall, this case outlines liver injury caused by HVGD in the absence of complete graft failure 34 years after HSCT, which has never been reported in the literature. STR-PCR analysis was essential for mitigating the diagnostic dilemma.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"40 ","pages":"Article 300774"},"PeriodicalIF":0.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143761003","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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Squamous cell carcinoma arising in sacrococcygeal teratoma in an adult: A case report

Human Pathology Reports Pub Date : 2025-03-31 DOI: 10.1016/j.hpr.2025.300773

Yasushi Tanaka , Ryota Nakanishi , Hirokuni Hazama , Taro Mori , Tetsuro Kawazoe , Kensuke Kudou , Yoko Zaitsu , Yuichi Hisamatsu , Koji Ando , Eiji Oki , Shinichi Aishima , Yoshinao Oda , Tomoharu Yoshizumi

引用次数: 0

Metastatic seminoma presenting in an external iliac lymph node in an asymptomatic elderly patient undergoing screening in a multi-cancer early detection study: Report of a case and review of the literature

Human Pathology Reports Pub Date : 2025-03-22 DOI: 10.1016/j.hpr.2025.300772

Benjamin F. Smith , Brenden L. Scott , Paul J. Michaels

{"title":"Metastatic seminoma presenting in an external iliac lymph node in an asymptomatic elderly patient undergoing screening in a multi-cancer early detection study: Report of a case and review of the literature","authors":"Benjamin F. Smith , Brenden L. Scott , Paul J. Michaels","doi":"10.1016/j.hpr.2025.300772","DOIUrl":"10.1016/j.hpr.2025.300772","url":null,"abstract":"<div><div>Multi-cancer early detection assays are being increasingly studied as a way to efficiently and effectively screen for low-stage and treatable cancers from various tissue origins with a single blood test. However, many of these tests suffer from a low positive predictive value and, in positive cases, may suggest tumor origin from a tissue site that is ultimately found to be inaccurate. This can lead to an expensive and often unnecessary diagnostic work-up. Seminomas of the testicle are poorly represented in the studies that have been done, as most of the studies enroll patients over the age of 50, a demographic with a very low incidence of germ cell tumors.</div><div>Here, we report a case of a 67-year-old male who was found to have a “positive” cancer signal on the multi-cancer early detection assay used in the PATHFINDER-2 trial. An ensuing work-up showed an enlarged external iliac lymph node that was hypermetabolic on whole-body PET CT scan. A core biopsy was diagnostic of seminoma. Further evaluation and surgery revealed an ipsilateral regressed germ cell tumor of the testicle and evidence of additional non-regional lymph node metastases.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"40 ","pages":"Article 300772"},"PeriodicalIF":0.0,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143678911","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

Pineal gland invasion and leptomeningeal dissemination of pancreatic mucinous adenocarcinoma

Human Pathology Reports Pub Date : 2025-02-21 DOI: 10.1016/j.hpr.2025.300771

Yiqiao Bao , Evan McNeil , William F. Hickey , Chun-Chieh Lin , George Zanazzi

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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}

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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}

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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}

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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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