Human Pathology: Case Reports最新文献_第3页

VCL-ALK renal cell carcinoma in adult patient without sickle cell trait 成人无镰状细胞特征的VCL-ALK肾细胞癌

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200528

Ankur R. Sangoi , Simon Y. Kimm , Emily Chan

引用次数: 1

Parapagus dicephalus conjoined twins with tribrachius and a single heart – A scarce variant of conjoined twins: A case report 双头异位双头三臂单心连体婴-罕见异位连体婴1例报告

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200533

Harapan Parlindungan Ringoringo

引用次数: 0

Pax-5 negative B-cell Lymphoma Pax-5阴性B细胞淋巴瘤

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200474

Muhamad Almiski , David P. Ng , Catherine Moltzan , Ivo M. Francischetti , Linton D. Sellen

引用次数: 0

Extranodal NK/T-cell lymphoma, nasal type presenting as primary intestinal lymphoma vs intestinal T-cell lymphoma: A borderline diagnostic category in the revised WHO classification 淋巴结外NK/T细胞淋巴瘤，鼻型表现为原发性肠淋巴瘤与肠T细胞淋巴瘤：世界卫生组织修订分类中的边界诊断类别

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200534

Brady E. Beltrán , Mario L. Marques-Piubelli , M. Pilar Quiñones , Esther Cotrina , Eugenio A. Palomino , Johnny Morales , Wilder Ramos , Eduardo M. Sotomayor , Julio C. Chavez , Jorge J. Castillo , Roberto N. Miranda

{"title":"Extranodal NK/T-cell lymphoma, nasal type presenting as primary intestinal lymphoma vs intestinal T-cell lymphoma: A borderline diagnostic category in the revised WHO classification","authors":"Brady E. Beltrán , Mario L. Marques-Piubelli , M. Pilar Quiñones , Esther Cotrina , Eugenio A. Palomino , Johnny Morales , Wilder Ramos , Eduardo M. Sotomayor , Julio C. Chavez , Jorge J. Castillo , Roberto N. Miranda","doi":"10.1016/j.ehpc.2021.200534","DOIUrl":"10.1016/j.ehpc.2021.200534","url":null,"abstract":"<div>Extranodal NK/T-cell lymphoma, nasal type, is an unusual Epstein-Barr Virus (EBV)-related lymphoma that carries a poor prognosis. Most cases affect upper aerodigestive tract, and secondarily may extend to skin, lungs, testis, and other sites. Extranodal NK/T-cell lymphoma, nasal type, presenting primarily as intestinal lymphoma is rare, and not recognized as a distinct entity and neither is considered as a special subtype of intestinal lymphoma of T-cell lineage. Here, we describe a 36-year-woman who presented with abdominal pain and acute-onset diarrhea. Her clinical course was complicated by intestinal perforation and peritonitis. She died one month later of sepsis. Pathologic examination revealed extranodal NK/T-cell lymphoma, nasal type, confined to the intestine. Immunophenotypically, the neoplastic cells expressed CD3 and Granzyme B, and were positive for EBV-encoded RNA (EBER) by in situ hybridization. From the practical point of view, we highlight the clinical, pathologic and immunophenotypic features that can be useful in the differential diagnosis from other intestinal lymphomas of T-cell lineage.</div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200534","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43350030","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

HER2 positive mucinous carcinoma of breast with micropapillary features: Report of a case and review of literature 具有微乳头特征的HER2阳性乳腺粘液癌1例报告及文献复习

Human Pathology: Case Reports Pub Date : 2021-09-01 DOI: 10.1016/j.ehpc.2021.200531

Dinesh Chandra Doval , Rupal Tripathi , Sunil Pasricha , Pankaj Goyal , Chaturbhuj Agrawal , Anurag Mehta

引用次数: 2

TUBA1A-GLI1 fusion in a soft tissue myoepithelial neoplasm TUBA1A-GLI1在软组织肌上皮肿瘤中的融合

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200497

Yajuan J. Liu , Michael J. Wagner , Edward Y. Kim , Eleanor Y. Chen

{"title":"TUBA1A-GLI1 fusion in a soft tissue myoepithelial neoplasm","authors":"Yajuan J. Liu , Michael J. Wagner , Edward Y. Kim , Eleanor Y. Chen","doi":"10.1016/j.ehpc.2021.200497","DOIUrl":"10.1016/j.ehpc.2021.200497","url":null,"abstract":"<div>Several types of benign and malignant neoplasms harboring GLI1 gene fusions with various partner genes, including ACTB, MALAT1 and PTCH1, have been described. These neoplasms show a spectrum of morphologic features and immunohistochemical profiles. However, the GLI1 gene fusion has not been described in soft tissue myoepithelial neoplasms previously. In this study, we reported a novel TUBA1A-GLI1 gene fusion in soft tissue neoplasm occurring in the chest wall of a 35-year-old male. The neoplasm shows morphologic features and immunophenotype of myoepithelial differentiation. FusionPlex analysis detected TUBA1A-GLI1 fusion in the neoplasm. The fusion transcript is comprised of 3′ end of exon 1 of TUBA1A and 5′ end of exon 6 of GLI1, retaining the FOXP coiled-coil domain and the DNA-binding zinc finger domains of GLI1. Promoter swapping with the TUBA1A (tubulin alpha 1a) gene likely leads to deregulation of GLI1 expression and its downstream targets. Despite the clinical presentation of multifocal disease and regional lymph node metastasis, the neoplasm in our case study appeared to be stable in a 10-month follow-up, suggesting that this neoplasm likely pursues an indolent clinical course. This study expands the morphologic and immunohistochemical spectrum of the neoplasms with GLI1 gene fusions and identifies a novel fusion in soft tissue myoepithelial neoplasms. As the TUBA1A-GLI1 fusion event likely results in activated GLI1 expression, targeting the Hedgehog pathway is a potential therapeutic option for treatment of patients with this neoplasm.</div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200497","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41632172","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: 3

Plexiform neurofibromas with diffuse ganglioneuromatosis of the urinary bladder 膀胱丛状神经纤维瘤伴弥漫性神经节神经瘤病

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200485

Katie Hall , Brian E. Moore , Ty T. Higuchi , Francisco G. La Rosa

引用次数: 0

Atypical clear cell sarcoma of the pleura presenting as large pleural effusion with 22q12 abnormality: A challenging case with twists and turns 非典型胸膜透明细胞肉瘤表现为22q12异常的大胸腔积液：一个具有挑战性的曲折病例

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200489

Xiaoming Zhang , Paul J. Zhang , Robyn Sussman , Leslie A. Litzky , John C. Kucharczuk , Charuhas Deshpande

{"title":"Atypical clear cell sarcoma of the pleura presenting as large pleural effusion with 22q12 abnormality: A challenging case with twists and turns","authors":"Xiaoming Zhang , Paul J. Zhang , Robyn Sussman , Leslie A. Litzky , John C. Kucharczuk , Charuhas Deshpande","doi":"10.1016/j.ehpc.2021.200489","DOIUrl":"10.1016/j.ehpc.2021.200489","url":null,"abstract":"<div>Primary clear cell sarcoma of soft tissue (CCSST) arising from the pleura is an infrequent occurrence, with only two cases reported in the English literature. We report a rare case of pleural CCSST with unusual clinical features and unconventional morphology. A 68-year-old man presented with a large right pleural effusion that developed following a dental abscess. He was treated with thoracentesis and antibiotics for suspected empyema without significant improvement. A CT-guided biopsy was performed and showed a malignant epithelioid neoplasm with significant pleomorphism and melanocytic differentiation, highly suggestive of a melanoma. The diagnosis was subsequently amended to CCSST based on the combined genetic findings (i.e., chromosome 22 abnormality, microsatellite stable status, no evidence of ultraviolet mutational signature, and lack of BRAF or any other mutations commonly identified in melanoma). Apart from the peculiar location, the present case showed several atypical features, such as older age at onset, unusual clinical presentations mimicking an infection, and unconventional morphology with significant pleomorphism and brisk mitotic activity. As such, it may be better classified as atypical CCSST. This case highlights the challenges in diagnosing CCSST and emphasizes the importance of including CCSST in the differential diagnosis of an epithelioid tumor with melanocytic differentiation.</div>","PeriodicalId":38075,"journal":{"name":"Human Pathology: Case Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.ehpc.2021.200489","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45694529","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: 1

Primary anaplastic large cell lymphoma of the CNS as initial presentation of HIV infection: A case report 原发性中枢神经系统间变性大细胞淋巴瘤作为HIV感染的初始表现:1例报告

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200513

Carolina Strosberg , Elizabeth M. Sagatys

引用次数: 1

Disseminated coccidioidomycosis in an immunocompetent patient: Report of a case and review of the literature 一名免疫活性患者的播散性球虫病：一例报告和文献复习

Human Pathology: Case Reports Pub Date : 2021-06-01 DOI: 10.1016/j.ehpc.2021.200521

Jordan P. Redemann , Karla A. Thornton , Jay S. Raval , Mohammad A. Vasef

引用次数: 3