Primary pulmonary epithelioid hemangioendothelioma metastatic to the pleura and mediastinal lymph node with a prominent rhabdoid cytomorphology showing CAMTA1::WWTR1 fusion and novel PRDM1 and TNFRSF14 mutations
{"title":"Primary pulmonary epithelioid hemangioendothelioma metastatic to the pleura and mediastinal lymph node with a prominent rhabdoid cytomorphology showing CAMTA1::WWTR1 fusion and novel PRDM1 and TNFRSF14 mutations","authors":"Maria F. Gonzalez, Anjali Seth","doi":"10.1111/cyt.13416","DOIUrl":null,"url":null,"abstract":"<p>Cases of epithelioid hemangioendothelioma with <i>WWTR1</i>::<i>CAMTA1</i> fusion can show rhabdoid cytomorphology. Lack of intracytoplasmic luminal spaces, marked rhabdoid cytomorphology, and variability in the expression of vascular markers makes the diagnosis of EHE challenging. Therefore, a high level of suspicion and ancillary studies (immunohistochemistry and next generation sequencing) help reach a definitive diagnosis in these cases.\n <figure>\n <div><picture>\n <source></source></picture><p></p>\n </div>\n </figure></p>","PeriodicalId":55187,"journal":{"name":"Cytopathology","volume":"35 5","pages":"654-657"},"PeriodicalIF":1.2000,"publicationDate":"2024-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cytopathology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cyt.13416","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Cases of epithelioid hemangioendothelioma with WWTR1::CAMTA1 fusion can show rhabdoid cytomorphology. Lack of intracytoplasmic luminal spaces, marked rhabdoid cytomorphology, and variability in the expression of vascular markers makes the diagnosis of EHE challenging. Therefore, a high level of suspicion and ancillary studies (immunohistochemistry and next generation sequencing) help reach a definitive diagnosis in these cases.
期刊介绍:
The aim of Cytopathology is to publish articles relating to those aspects of cytology which will increase our knowledge and understanding of the aetiology, diagnosis and management of human disease. It contains original articles and critical reviews on all aspects of clinical cytology in its broadest sense, including: gynaecological and non-gynaecological cytology; fine needle aspiration and screening strategy.
Cytopathology welcomes papers and articles on: ultrastructural, histochemical and immunocytochemical studies of the cell; quantitative cytology and DNA hybridization as applied to cytological material.