Human Pathology Reports最新文献_第5页

Intestinal ganglioneuromatosis of the ileum and colon in a pediatric patient: a case report associated with Noonan syndrome 儿童患者回肠和结肠肠神经节神经瘤病：与努南综合征相关的病例报告

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-08-20 DOI: 10.1016/j.hpr.2025.300788

Carvajalino-Galeano Ana Beatriz , Garcia-Garzon Gabriela , Ebratt-Rincon Angie , Vargas Magda Jimena , Mercedes Olaya-C

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The Milestones of Human Pathology Reports 人类病理学报告的里程碑

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-02-05 DOI: 10.1016/j.hpr.2025.300770

Shi Wei MD, PhD (Editor-in-Chief)

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Clinicopathological analysis of ovarian tumors in adolescent women under 20 years in Yazd, Iran (2011–2021): a 10-year retrospective study 伊朗Yazd(2011-2021) 20岁以下青春期女性卵巢肿瘤临床病理分析：一项10年回顾性研究

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-06-26 DOI: 10.1016/j.hpr.2025.300779

Saadat Eslami , Mohammad Aboutalebi Mirsaleh , Sedigheh Ekraminasab

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Complex interplay of Epstein-Barr virus-associated lymphoproliferative disorder, angioimmunoblastic T-cell lymphoma, and paraneoplastic syndromes: A case report eb病毒相关淋巴细胞增生性疾病、血管免疫母细胞t细胞淋巴瘤和副肿瘤综合征的复杂相互作用：1例报告

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-08-28 DOI: 10.1016/j.hpr.2025.300791

Jacob Fiedler , D.O. Caterina Aiello , Tabinda Jawaid , Carinne Anderson , Alla Rudinskaya , Vincent Rella , Jeffrey West , Gunjan Gupta , Paul Fiedler

{"title":"Complex interplay of Epstein-Barr virus-associated lymphoproliferative disorder, angioimmunoblastic T-cell lymphoma, and paraneoplastic syndromes: A case report","authors":"Jacob Fiedler , D.O. Caterina Aiello , Tabinda Jawaid , Carinne Anderson , Alla Rudinskaya , Vincent Rella , Jeffrey West , Gunjan Gupta , Paul Fiedler","doi":"10.1016/j.hpr.2025.300791","DOIUrl":"10.1016/j.hpr.2025.300791","url":null,"abstract":"<div><div>We report a diagnostically challenging case of a 66-year-old woman with EBV-positive polymorphic B-cell lymphoproliferative disorder (LPD), angioimmunoblastic T-cell lymphoma (AITL), and endometrial adenocarcinoma. Her initial presentation with RS3PE syndrome and a cutaneous eruption mimicking inflammatory breast carcinoma delayed recognition of underlying lymphoid malignancy. Skin biopsy revealed EBV + LPD, and months later she was diagnosed with AITL via lymph node biopsy. All three neoplasms have been linked to elevated vascular endothelial growth factor (VEGF), suggesting a shared pathogenic pathway. This case underscores the importance of considering EBV + LPD as a potential early marker of TFH lymphoma, especially in immunosenescent patients, and raises the possibility of RS3PE as a paraneoplastic harbinger of VEGF-driven disease. Multidisciplinary evaluation was essential to untangle the overlapping clinical and pathological findings.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300791"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144913035","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

Pilomatrix carcinoma-like gallbladder carcinoma 样胆囊癌

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-08-31 DOI: 10.1016/j.hpr.2025.300790

Keiichi Kinowaki , Julie S. Deutsch , Marina Baretti , William R. Burns , Kiyoko Oshima

{"title":"Pilomatrix carcinoma-like gallbladder carcinoma","authors":"Keiichi Kinowaki , Julie S. Deutsch , Marina Baretti , William R. Burns , Kiyoko Oshima","doi":"10.1016/j.hpr.2025.300790","DOIUrl":"10.1016/j.hpr.2025.300790","url":null,"abstract":"<div><div>Pilomatrix carcinoma (PC) is a malignant cutaneous tumor characterized by ghost cell keratinization, nuclear positivity for β-catenin, and mutations in <em>catenin beta 1 (CTNNB1)</em> exon 3. We report the first documented case of a primary gallbladder tumor exhibiting a PC-like phenotype with a <em>CTNNB1</em> exon 3 mutation. The patient was a 74-year-old female who presented with a rapidly enlarging hepatic tumor. The tumor did not respond to preoperative chemotherapy but was removed with surgery. Histopathological examination of resection specimens revealed neoplastic cells forming solid nests of varying sizes, accompanied by ghost cell keratinization and necrosis. Immunohistochemical analysis demonstrated diffusely aberrant nuclear and cytoplasmic β-catenin staining. Molecular testing revealed a <em>CTNNB1</em> exon 3 mutation. These findings were consistent with a PC-like phenotype. The patient was unresponsive to postoperative chemotherapy and developed pulmonary metastases, leading to death four months after surgery. The tumor is notable for its rapid progression and poor prognosis, highlighting the clinical significance of recognizing this rare histological subtype. To our knowledge, this is the first reported case of a gallbladder neoplasm exhibiting the full spectrum of histopathological and molecular features characteristic of PC, including the <em>CTNNB1</em> exon 3 mutation.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300790"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144922549","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

Paradoxical cadherin-catenin immunostaining in a case of invasive mammary carcinoma with ductal and lobular differentiation: A molecular correlation 具有导管和小叶分化的浸润性乳腺癌的矛盾钙粘蛋白-连环蛋白免疫染色：分子相关性

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-06-12 DOI: 10.1016/j.hpr.2025.300777

Seena Tabibi, Megan L. Troxell , Carlos J. Suarez

{"title":"Paradoxical cadherin-catenin immunostaining in a case of invasive mammary carcinoma with ductal and lobular differentiation: A molecular correlation","authors":"Seena Tabibi, Megan L. Troxell , Carlos J. Suarez","doi":"10.1016/j.hpr.2025.300777","DOIUrl":"10.1016/j.hpr.2025.300777","url":null,"abstract":"<div><div>We present a 66-year-old woman with right breast invasive mammary carcinoma with distinct areas consisting of lobular and tubular morphology. The areas with lobular morphology paradoxically demonstrated intact membranous expression of E-cadherin, membranous p120 expression, with loss of beta-catenin. In this lobular appearing area of tumor, massive parallel sequencing identified a p. Y835* (c.2504_2505del) variant in the CDH1 gene, which results in premature termination in the last exon and a truncated protein. The areas with tubular morphology unexpectedly demonstrated lack of E-cadherin and beta-catenin expression along with cytoplasmic p120 expression. In this tubular appearing area of tumor, massive parallel sequencing identified a variant in CDH1 at the exon–intron boundary (c.1711 G > A). Proposed mechanisms for absence of E-cadherin protein in this area include aberrant mRNA splicing or protein misfolding resulting from the missense alteration. Nevertheless, a genetic and phenotypic correlation in both morphologically distinct areas of the tumor is evident.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300777"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144272114","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

Primary esophageal succinate dehydrogenase deficient epithelioid gastrointestinal stromal tumor: A diagnostic pitfall of poorly differentiated carcinoma 原发性食管琥珀酸脱氢酶缺陷上皮样胃肠道间质瘤：低分化癌的诊断陷阱

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-08-01 DOI: 10.1016/j.hpr.2025.300786

Lu Zhao , Tang-chen Yin , Meng-yuan Shao , Meng Sun , IWeng Lao , Cong Tan , Yuan Li , Lin Yu , Xiao-yan Zhou , Jian Wang

{"title":"Primary esophageal succinate dehydrogenase deficient epithelioid gastrointestinal stromal tumor: A diagnostic pitfall of poorly differentiated carcinoma","authors":"Lu Zhao , Tang-chen Yin , Meng-yuan Shao , Meng Sun , IWeng Lao , Cong Tan , Yuan Li , Lin Yu , Xiao-yan Zhou , Jian Wang","doi":"10.1016/j.hpr.2025.300786","DOIUrl":"10.1016/j.hpr.2025.300786","url":null,"abstract":"<div><div>Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumors (GISTs) are located exclusively in the stomach with a predilection for young adults and children. Occurrences of SDH-deficient GISTs in the extra-gastric location are rather rare. Herein, we presented an unusual esophageal case of SDH-deficient GIST with epithelioid morphology, initially mistaken for poorly differentiated carcinoma. The patient was a 26-year-old male who complained of dysphagia with chest pain. Imaging examinations revealed a submucosal solid mass in the middle esophagus. Histological sections of biopsies showed diffusely distributed or singly scattered epithelioid neoplastic cells with eosinophilic cytoplasm. The immunostaining of epithelial and neuroendocrine markers yielded negative results. Further immunostaining of mesenchymal markers revealed that the neoplastic cells were positive for CD117 and DOG1, with absence of SDHB expression. The morphology and immunophenotype of the resected specimen were consistent with those of the biopsies. Next-generation sequencing detected a nonsense mutation of <em>SDHB</em> gene. Given the different clinical management and outcomes, we proposed that GISTs be included in the differential diagnoses of esophageal epithelioid neoplasms, albeit rare. Awareness of the possibility of SDH-deficient GISTs located outside the stomach, close attention to the suggestive features, and application of ancillary tests, including SDHB immunostaining, would help recognize this unique GIST subtype.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300786"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144757513","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

A rare case report and literature review of Ewing sarcoma of the vagina 阴道尤因肉瘤1例报告及文献复习

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-06-28 DOI: 10.1016/j.hpr.2025.300781

Jennifer Vazzano, Wei Chen

{"title":"A rare case report and literature review of Ewing sarcoma of the vagina","authors":"Jennifer Vazzano, Wei Chen","doi":"10.1016/j.hpr.2025.300781","DOIUrl":"10.1016/j.hpr.2025.300781","url":null,"abstract":"<div><div>Primary Ewing sarcoma of the vagina is rare. Here we report the only case in a large tertiary center in the past 20 years. A 47-year-old female with vaginal bleeding had imaging revealing a mass in the upper vagina extending into the lower uterine segment and urethra. Outside biopsies demonstrated a high-grade small round blue cell tumor, with focal immunoreactivity for cytokeratin AE1/3, CAM5.2, PAX8, synaptophysin and chromogranin. An initial diagnosis of high-grade carcinoma with focal neuroendocrine differentiation was made, and the patient had partial response to chemoradiation. Subsequent TEMPUS genomic testing revealed <em>EWSR1-FLI1</em> somatic gene fusion, suggesting Ewing sarcoma. CD99 immunohistochemistry (IHC) was performed and showed diffuse membranous staining. A diagnosis of Ewing sarcoma of the vagina was rendered. Primary Ewing sarcoma should be included in the differential diagnosis of a high-grade small round cell tumor of the vagina as it may show variable IHC pattern, mimicking Müllerian or neuroendocrine carcinoma. CD99 and Fli-1 IHCs are helpful to point to this diagnosis, and molecular analysis with the characteristic <em>EWSR1</em> gene fusion confirms it. The prognosis of Ewing sarcoma of the vagina is like that in other sites, and more favorable than those in typical locations.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300781"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144501379","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}

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Ectopic adrenocortical adenoma in liver disguising as hepatocellular carcinoma: A case report and literature review 肝脏异位肾上腺皮质腺瘤伪装成肝细胞癌1例报告并文献复习

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-06-26 DOI: 10.1016/j.hpr.2025.300780

Jixuan Duan , Chong Peng , Ting Sun, Heng Wen, Fangyan Lu, Yan Zheng, Wenjin Zhang

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Disseminated iatrogenic Kaposi sarcoma in an individual with autoimmune hemolytic anemia from India– A rare case report 弥散性医源性卡波西肉瘤一例印度自身免疫性溶血性贫血病例报告

Human Pathology Reports Pub Date : 2025-09-01 Epub Date: 2025-06-18 DOI: 10.1016/j.hpr.2025.300778

Dhivya Nanjundamoorthi , Suganthi Krishnamurthy , Prabhu Pandurangan

{"title":"Disseminated iatrogenic Kaposi sarcoma in an individual with autoimmune hemolytic anemia from India– A rare case report","authors":"Dhivya Nanjundamoorthi , Suganthi Krishnamurthy , Prabhu Pandurangan","doi":"10.1016/j.hpr.2025.300778","DOIUrl":"10.1016/j.hpr.2025.300778","url":null,"abstract":"<div><div>Kaposi sarcoma is a rare vascular neoplasm associated with Kaposi’s sarcoma-associated Herpesvirus infection. There are four clinical forms of KS, of which Classic and Iatrogenic Kaposi Sarcoma are rare in India. Our patient, a middle-aged woman, presented with generalized lymphadenopathy along with papulonodular skin lesions in the right thigh and gingival mucosa, with an antecedent history of Autoimmune hemolytic anaemia (AIHA) treated with corticosteroids. The histopathology of the lymph node excision revealed a Vaso formative lesion with proliferative spindle cells expressing ERG, CD31, CD34 and Human Herpes virus 8 (HHV8) by immunohistochemistry. The patient was tested seronegative for HIV 1 and 2. Hence, a diagnosis of Kaposi Sarcoma with disseminated mucosal and lymph node metastasis was established. The patient was administered systemic chemotherapy with Liposomal Doxorubicin and is on regular follow-up with no disease progression. We present this case due to its rarity of presentation in an individual of Indian ethnicity preceded by corticosteroid therapy for AIHA for a 6-month duration.</div></div>","PeriodicalId":100612,"journal":{"name":"Human Pathology Reports","volume":"41 ","pages":"Article 300778"},"PeriodicalIF":0.0,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145007659","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