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Epithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion

MedGen UID:
1783904
•Concept ID:
C5447846
•
Neoplastic Process
Synonym: Epithelioid Hemangioendothelioma with WWTR1::CAMTA1 Gene Fusion

Definition

Epithelioid hemangioendothelioma characterized by a t(1;3)(p36;q23-q25) translocation, resulting in a WWTR1-CAMTA1 gene fusion. This translocation and associated gene fusion occur in more than 90% of epithelioid hemangioendotheliomas. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpithelioid Hemangioendothelioma with WWTR1-CAMTA1 Gene Fusion

Professional guidelines

PubMed

CAMTA-1 Expression in 24 Cases of Hepatic Epithelioid Hemangioendothelioma in a Single Institute: Diagnostic Utility for Differential Diagnosis from Hepatic Angiosarcoma.
Jung H, Kim HN, Jang Y, Park CK, Ha SY
In Vivo 2019 Nov-Dec;33(6):2293-2297. doi: 10.21873/invivo.11736. PMID: 31662570Free PMC Article

Recent clinical studies

Etiology

Prognostic stratification of clinical and molecular epithelioid hemangioendothelioma subsets.
Rosenbaum E, Jadeja B, Xu B, Zhang L, Agaram NP, Travis W, Singer S, Tap WD, Antonescu CR
Mod Pathol 2020 Apr;33(4):591-602. Epub 2019 Sep 19 doi: 10.1038/s41379-019-0368-8. PMID: 31537895Free PMC Article
Epithelioid hemangioendotheliomas with TFE3 gene translocations are compossible with CAMTA1 gene rearrangements.
Lee SJ, Yang WI, Chung WS, Kim SK
Oncotarget 2016 Feb 16;7(7):7480-8. doi: 10.18632/oncotarget.7060. PMID: 26840265Free PMC Article
Thoracic epithelioid malignant vascular tumors: a clinicopathologic study of 52 cases with emphasis on pathologic grading and molecular studies of WWTR1-CAMTA1 fusions.
Anderson T, Zhang L, Hameed M, Rusch V, Travis WD, Antonescu CR
Am J Surg Pathol 2015 Jan;39(1):132-9. doi: 10.1097/PAS.0000000000000346. PMID: 25353289Free PMC Article
Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma.
Antonescu CR, Le Loarer F, Mosquera JM, Sboner A, Zhang L, Chen CL, Chen HW, Pathan N, Krausz T, Dickson BC, Weinreb I, Rubin MA, Hameed M, Fletcher CD
Genes Chromosomes Cancer 2013 Aug;52(8):775-84. Epub 2013 Jun 5 doi: 10.1002/gcc.22073. PMID: 23737213Free PMC Article

Diagnosis

Nuclear Expression of CAMTA1 Distinguishes Epithelioid Hemangioendothelioma From Histologic Mimics.
Doyle LA, Fletcher CD, Hornick JL
Am J Surg Pathol 2016 Jan;40(1):94-102. doi: 10.1097/PAS.0000000000000511. PMID: 26414223
CAMTA1 is a useful immunohistochemical marker for diagnosing epithelioid haemangioendothelioma.
Shibuya R, Matsuyama A, Shiba E, Harada H, Yabuki K, Hisaoka M
Histopathology 2015 Dec;67(6):827-35. Epub 2015 May 22 doi: 10.1111/his.12713. PMID: 25879300
CAMTA1 immunostaining is not useful in differentiating epithelioid hemangioendothelioma from its potential mimickers.
Yusıflı Z, Kösemehmetoğlu K
Turk Patoloji Derg 2014;30(3):159-65. doi: 10.5146/tjpath.2014.01272. PMID: 25110239
Malignant vascular tumors--an update.
Antonescu C
Mod Pathol 2014 Jan;27 Suppl 1:S30-8. doi: 10.1038/modpathol.2013.176. PMID: 24384851
A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites.
Errani C, Zhang L, Sung YS, Hajdu M, Singer S, Maki RG, Healey JH, Antonescu CR
Genes Chromosomes Cancer 2011 Aug;50(8):644-53. Epub 2011 May 16 doi: 10.1002/gcc.20886. PMID: 21584898Free PMC Article

Therapy

GDF-15 Predicts Epithelioid Hemangioendothelioma Aggressiveness and Is Downregulated by Sirolimus through ATF4/ATF5 Suppression.
Stacchiotti S, Martini S, Pasquali S, Frezza AM, Beretta A, Percio S, Lecchi M, Tortoreto M, Barisella M, Collini P, Dagrada GP, Merlini A, Huang PH, Jenks A, Jones RL, Tap WD, Ingrosso M, Morosi C, Brich S, Giani C, Verderio P, Casali PG, Leonard H, Gronchi A, Zuco V, Zaffaroni N
Clin Cancer Res 2024 Nov 15;30(22):5122-5137. doi: 10.1158/1078-0432.CCR-23-3991. PMID: 39283723Free PMC Article
Case of epithelioid hemangioendothelioma occurring in the postradiation setting for breast cancer.
Hahn E, Dickson BC, Gupta AA, Nofech-Mozes S
Genes Chromosomes Cancer 2021 Feb;60(2):112-115. Epub 2020 Nov 10 doi: 10.1002/gcc.22912. PMID: 33125182

Prognosis

Prognostic stratification of clinical and molecular epithelioid hemangioendothelioma subsets.
Rosenbaum E, Jadeja B, Xu B, Zhang L, Agaram NP, Travis W, Singer S, Tap WD, Antonescu CR
Mod Pathol 2020 Apr;33(4):591-602. Epub 2019 Sep 19 doi: 10.1038/s41379-019-0368-8. PMID: 31537895Free PMC Article
Epithelioid hemangioendotheliomas with TFE3 gene translocations are compossible with CAMTA1 gene rearrangements.
Lee SJ, Yang WI, Chung WS, Kim SK
Oncotarget 2016 Feb 16;7(7):7480-8. doi: 10.18632/oncotarget.7060. PMID: 26840265Free PMC Article
Advances in the clinicopathological and molecular classification of cutaneous mesenchymal neoplasms.
Costigan DC, Doyle LA
Histopathology 2016 May;68(6):776-95. Epub 2016 Mar 1 doi: 10.1111/his.12930. PMID: 26763770
Nuclear Expression of CAMTA1 Distinguishes Epithelioid Hemangioendothelioma From Histologic Mimics.
Doyle LA, Fletcher CD, Hornick JL
Am J Surg Pathol 2016 Jan;40(1):94-102. doi: 10.1097/PAS.0000000000000511. PMID: 26414223
Malignant vascular tumors--an update.
Antonescu C
Mod Pathol 2014 Jan;27 Suppl 1:S30-8. doi: 10.1038/modpathol.2013.176. PMID: 24384851

Clinical prediction guides

WWTR1(TAZ)-CAMTA1 gene fusion is sufficient to dysregulate YAP/TAZ signaling and drive epithelioid hemangioendothelioma tumorigenesis.
Seavey CN, Pobbati AV, Hallett A, Ma S, Reynolds JP, Kanai R, Lamar JM, Rubin BP
Genes Dev 2021 Apr 1;35(7-8):512-527. Epub 2021 Mar 25 doi: 10.1101/gad.348220.120. PMID: 33766982Free PMC Article
Prognostic stratification of clinical and molecular epithelioid hemangioendothelioma subsets.
Rosenbaum E, Jadeja B, Xu B, Zhang L, Agaram NP, Travis W, Singer S, Tap WD, Antonescu CR
Mod Pathol 2020 Apr;33(4):591-602. Epub 2019 Sep 19 doi: 10.1038/s41379-019-0368-8. PMID: 31537895Free PMC Article
Epithelioid hemangioendotheliomas with TFE3 gene translocations are compossible with CAMTA1 gene rearrangements.
Lee SJ, Yang WI, Chung WS, Kim SK
Oncotarget 2016 Feb 16;7(7):7480-8. doi: 10.18632/oncotarget.7060. PMID: 26840265Free PMC Article
CAMTA1 immunostaining is not useful in differentiating epithelioid hemangioendothelioma from its potential mimickers.
Yusıflı Z, Kösemehmetoğlu K
Turk Patoloji Derg 2014;30(3):159-65. doi: 10.5146/tjpath.2014.01272. PMID: 25110239
Malignant vascular tumors--an update.
Antonescu C
Mod Pathol 2014 Jan;27 Suppl 1:S30-8. doi: 10.1038/modpathol.2013.176. PMID: 24384851

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