YAP1-TFE3 epithelioid hemangioendothelioma: a case without vasoformation and a new transcript variant.
Epithelioid hemangioendothelioma is a rare vascular tumor of borderline malignancy characterized by recurrent WWTR1-CAMTA1 gene fusions in approximately 90 % of cases. In addition, a recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1 negative epithelioid hemangioendotheliomas. This...
| Publicado en: | Virchows Archiv: European Journal of Pathology Vol. 466; no. 4; pp. 473 - 479 |
|---|---|
| Autores principales: | , , , , |
| Formato: | case study Journal Article |
| Publicado: |
Springer Nature
Apr2015
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=109780942&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 109780942 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 09456317 O1Z jtl: Virchows Archiv: European Journal of Pathology issn: 09456317 maglogo: N pubinfo: dt: Apr2015 vid: 466 iid: 4 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 109780942 NLM25680571 2012969232 10.1007/s00428-015-1730-y NLM25680571 109780942 ppf: 473 ppct: 6 formats: fmt: @attributes: type: P tig: atl: YAP1-TFE3 epithelioid hemangioendothelioma: a case without vasoformation and a new transcript variant. aug: au: Puls, Florian Niblett, Angela Clarke, Jade Kindblom, Lars-Gunnar McCulloch, Tom affil: Department of Musculoskeletal Pathology, Royal Orthopaedic Hospital NHS Foundation Trust, Birmingham, UK, florian.puls@nhs.net. sug: subj: Carrier Proteins Proteins Hemangioma Hemangioma Pathology Phosphoproteins Adult Nucleotides Cystic Fibrosis Complications Immunohistochemistry In Situ Hybridization, Fluorescence Lung Transplantation Lymph Nodes Pathology Male Reverse Transcriptase Polymerase Chain Reaction Chromosome Disorders Adult: 19-44 years Male ab: Epithelioid hemangioendothelioma is a rare vascular tumor of borderline malignancy characterized by recurrent WWTR1-CAMTA1 gene fusions in approximately 90 % of cases. In addition, a recurrent YAP1-TFE3 gene fusion has been identified in WWTR1-CAMTA1 negative epithelioid hemangioendotheliomas. This subset has been reported as having a distinct morphology with more obvious vasoformation, voluminous eosinophilic cytoplasm, and TFE3 positivity on immunohistochemistry. We report a case of a YAP1-TFE3 translocated epithelioid hemangioendothelioma arising in a groin lymph node in a 29-year-old male. Plump spindle cell morphology and absence of vasoformation made correct diagnosis particularly difficult. Immunohistochemistry showed nuclear positivity for both ERG and TFE3, fluorescence in situ hybridization showed break apart for TFE3 and RT-PCR identified a YAP1 exon1 to TFE3 exon 6 transcript, a previously unreported fusion variant. Awareness of this solid morphology and variant fusion will aid in identification of future cases of this rare vascular tumor. pubtype: Academic Journal doctype: case study Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|