Journal article
Molecular characterization of epithelioid haemangioendotheliomas identifies novel WWTR1-CAMTA1 fusion variants
Histopathology, Vol.67(5), pp.699-708
11/2015
DOI: 10.1111/his.12697
PMID: 25817592
Abstract
Epithelioid haemangioendothelioma (EHE) is a malignant vascular neoplasm. Subsets have been characterized previously by translocations resulting in either WWTR1-CAMTA1 or YAP1-TFE3 fusion. We sought to develop molecular and immunohistochemical (IHC) assays to aid in the diagnosis and characterization of EHE.
Fifty-two formalin-fixed, paraffin-embedded (FFPE) cases diagnosed between 2002 and 2014 were retrieved from the pathology files of our institutions. Reverse transcription-polymerase chain reaction (RT-PCR) assays were optimized to detect WWTR1-CAMTA1 and YAP1-TFE3 fusion transcripts in FFPE tissue and transcription factor E3 (TFE3) protein accumulation was examined by immunohistochemistry (IHC). RNA was extracted from 33 adequate samples, with more recent cases providing a greater yield of high quality RNA. Fourteen of 18 informative cases were positive for WWTR1-CAMTA1 fusion transcripts, four of which showed higher-grade cytological features termed by some as 'malignant EHE'. Novel in-frame fusion transcripts were identified in four cases by direct sequencing. IHC revealed variable nuclear TFE3 staining in six of 17 cases; three with patchy staining showed WWTR1-CAMTA1 fusion. One of 18 informative cases was positive for YAP1-TFE3 fusion and showed strong nuclear TFE3 staining by IHC.
This study confirms the high incidence of WWTR1-CAMTA1 and YAP1-TFE3 rearrangements in EHE and indicates that the staining pattern for TFE3 IHC is critical for specificity.
Details
- Title: Subtitle
- Molecular characterization of epithelioid haemangioendotheliomas identifies novel WWTR1-CAMTA1 fusion variants
- Creators
- Nimesh R Patel - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USAAlaa A Salim - Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USAHadi Sayeed - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USAStephen F Sarabia - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USAFaith Hollingsworth - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USAMikako Warren - Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital, Cincinnati, OH, USAJared Jakacky - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USAMunir Tanas - Department of Pathology, University of Iowa, Iowa City, IA, USAAndre M Oliveira - Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USABrian P Rubin - Pathology and Laboratory Medicine Institute, Cleveland Clinic and the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USAAlexander J Lazar - Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USADolores López-Terrada - Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USAWei-Lien Wang - Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA
- Resource Type
- Journal article
- Publication Details
- Histopathology, Vol.67(5), pp.699-708
- Publisher
- England
- DOI
- 10.1111/his.12697
- PMID
- 25817592
- ISSN
- 0309-0167
- eISSN
- 1365-2559
- Grant note
- DOI: 10.13039/100007313, name: University of Texas MD Anderson Cancer Center
- Language
- English
- Date published
- 11/2015
- Academic Unit
- Pathology
- Record Identifier
- 9984047645602771
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