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Article

Identification of a Disease-Defining Gene Fusion in Epithelioid Hemangioendothelioma

31 Aug 2011

Abstract excerpt

Integrating transcriptomic sequencing with conventional cytogenetics, we identified WWTR1 (WW domain-containing transcription regulator 1) (3q25) and CAMTA1 (calmodulin-binding transcription activator 1) (1p36) as the two genes involved in the t(1;3)(p36;q25) chromosomal translocation that is characteristic of epithelioid hemangioendothelioma (EHE), a vascular sarcoma. This WWTR1/CAMTA1 gene fusion is under the...

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PMID: 21885404
DOI: 10.1126/scitranslmed.3002409

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Identification of a Disease-Defining Gene Fusion in Epithelioid HemangioendotheliomaPMID 21885404Read ↗

A novel <i>WWTR1‐CAMTA1</i> gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sitesSemantic proximity Read ↗

Epithelioid hemangioendothelioma ( EHE ) with WWTR1::TFE3 gene fusion, a novel fusion variantSemantic proximity Read ↗

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CAMTA1 is a useful immunohistochemical marker for diagnosing epithelioid haemangioendotheliomaSemantic proximity Read ↗

Epithelioid hemangioendotheliomas with TFE3 gene translocations are compossible with CAMTA1 gene rearrangementsSemantic proximity Read ↗

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.Semantic proximity Read ↗

Novel YAP1‐TFE3 fusion defines a distinct subset of epithelioid hemangioendotheliomaSemantic proximity Read ↗

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