PMID- 21584898
OWN - NLM
STAT- MEDLINE
DCOM- 20111107
LR  - 20240322
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 50
IP  - 8
DP  - 2011 Aug
TI  - A novel WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid 
      hemangioendothelioma of different anatomic sites.
PG  - 644-53
LID - 10.1002/gcc.20886 [doi]
AB  - The classification of epithelioid vascular tumors remains challenging, as there 
      is considerable morphological overlap between tumor subtypes, across the spectrum 
      from benign to malignant categories. A t(1;3)(p36.3;q25) translocation was 
      reported in two cases of epithelioid hemangioendothelioma (EHE), however, no 
      follow-up studies have been performed to identify the gene fusion or to assess 
      its prevalence in a larger cohort of patients. We undertook a systematic 
      molecular analysis of 17 EHE, characterized by classic morphological and 
      immunophenotypic features, from various anatomical locations and with different 
      malignant potential. For comparison, we analyzed 13 epithelioid hemangiomas, five 
      epithelioid angiosarcomas, and four epithelioid sarcoma-like EHE. A fluorescence 
      in situ hybridization (FISH) positional cloning strategy, spanning the 
      cytogenetically defined regions on chromosomes 1p36.3 and 3q25, confirmed 
      rearrangements in two candidate genes from these loci in all EHE cases tested. 
      None of the other benign or malignant epithelioid vascular tumors examined 
      demonstrated these abnormalities. Subsequent reverse transcription-polymerase 
      chain reaction (RT-PCR) confirmed in three EHE the WWTR1-CAMTA1 fusion product. 
      CAMTA1 and WWTR1 have been previously shown to play important roles in 
      oncogenesis. Our results demonstrate the presence of a WWTR1-CAMTA1 fusion in all 
      EHE tested from bone, soft tissue, and visceral location (liver, lung) in keeping 
      with a unique and specific pathological entity. Thus, FISH or RT-PCR analysis for 
      the presence of WWTR1-CAMTA1 fusion may serve as a useful molecular diagnostic 
      tool in challenging diagnoses.
CI  - Copyright (c) 2011 Wiley-Liss, Inc.
FAU - Errani, Costantino
AU  - Errani C
AD  - Department of Pathology, Sloan-Kettering Cancer Center, New York, NY 10021, USA.
FAU - Zhang, Lei
AU  - Zhang L
FAU - Sung, Yun Shao
AU  - Sung YS
FAU - Hajdu, Mihai
AU  - Hajdu M
FAU - Singer, Samuel
AU  - Singer S
FAU - Maki, Robert G
AU  - Maki RG
FAU - Healey, John H
AU  - Healey JH
FAU - Antonescu, Cristina R
AU  - Antonescu CR
LA  - eng
GR  - P50 CA 140146-01/CA/NCI NIH HHS/United States
GR  - P50 CA140146-01A1/CA/NCI NIH HHS/United States
GR  - P01 CA047179-15A2/CA/NCI NIH HHS/United States
GR  - P01 CA047179/CA/NCI NIH HHS/United States
GR  - P50 CA140146/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
DEP - 20110516
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (CAMTA1 protein, human)
RN  - 0 (Calcium-Binding Proteins)
RN  - 0 (Intracellular Signaling Peptides and Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Trans-Activators)
RN  - 0 (Transcription Factors)
RN  - 0 (Transcriptional Coactivator with PDZ-Binding Motif Proteins)
RN  - 0 (WWTR1 protein, human)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Calcium-Binding Proteins/*genetics
MH  - Female
MH  - *Gene Fusion
MH  - Hemangioendothelioma, Epithelioid/diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intracellular Signaling Peptides and Proteins/*genetics
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/genetics
MH  - Trans-Activators/*genetics
MH  - Transcription Factors
MH  - Transcriptional Coactivator with PDZ-Binding Motif Proteins
MH  - Translocation, Genetic
PMC - PMC3264678
MID - NIHMS349583
EDAT- 2011/05/18 06:00
MHDA- 2011/11/08 06:00
PMCR- 2012/08/01
CRDT- 2011/05/18 06:00
PHST- 2011/03/10 00:00 [received]
PHST- 2011/04/04 00:00 [accepted]
PHST- 2011/05/18 06:00 [entrez]
PHST- 2011/05/18 06:00 [pubmed]
PHST- 2011/11/08 06:00 [medline]
PHST- 2012/08/01 00:00 [pmc-release]
AID - 10.1002/gcc.20886 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2011 Aug;50(8):644-53. doi: 10.1002/gcc.20886. Epub 
      2011 May 16.