PMID- 22429598
OWN - NLM
STAT- MEDLINE
DCOM- 20120507
LR  - 20201209
IS  - 2210-7762 (Print)
VI  - 205
IP  - 1-2
DP  - 2012 Jan-Feb
TI  - A t(17;22)(q21;q12) with partial ETV4 deletion in a soft tissue Ewing sarcoma.
PG  - 55-60
LID - 10.1016/j.cancergen.2012.01.007 [doi]
AB  - Cytogenetic analysis of a lumbar soft tissue Ewing sarcoma (ES) in a 7-month-old 
      female child showed a t(17;22)(q21;q12), a rare translocation leading to an 
      EWSR1-ETV4 chimeric transcript. These findings were confirmed by reverse 
      transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ 
      hybridization (FISH) techniques. The breakpoints were characterized by direct 
      sequencing of the chimeric fusion gene. Tumor genotyping using the Affymetrix 
      Genome-Wide Human single nucleotide polymorphism (SNP) array 6.0 Genechip 
      identified deletions of both chromosomal regions involved in the translocation, 
      resulting in partial deletion of ETV4, but an uninvolved EWSR1 gene. The creation 
      of a fusion between EWSR1 and an ETS family gene consecutive to a chromosomal 
      translocation is characteristic of the Ewing family of tumors (EFT). This is the 
      first report of a deletion involving the two breakpoints in an EWS-ETS 
      translocation. To date, only two cases of t(17;22)(q21;q12) in Ewing sarcoma have 
      been reported, with no associated deletion. Interestingly, both cases had also 
      occurred in soft tissue tumors, which are less common than their bone-involving 
      counterparts.
CI  - Copyright (c) 2012 Elsevier Inc. All rights reserved.
FAU - Rougemont, Anne-Laure
AU  - Rougemont AL
AD  - Department of Pathology, Centre Hospitalier Universitaire Sainte-Justine, 
      Montreal, Quebec, Canada. anne-laure.rougemont@hcuge.ch
FAU - Bouron-Dal Soglio, Dorothee
AU  - Bouron-Dal Soglio D
FAU - Patey-Mariaud de Serre, Natacha
AU  - Patey-Mariaud de Serre N
FAU - Fetni, Raouf
AU  - Fetni R
FAU - Fan, Li
AU  - Fan L
FAU - Barrette, Stephane
AU  - Barrette S
FAU - Fournet, Jean-Christophe
AU  - Fournet JC
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Adenovirus E1A Proteins)
RN  - 0 (ETV4 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Proto-Oncogene Proteins c-ets)
SB  - IM
MH  - Adenovirus E1A Proteins/*genetics
MH  - *Chromosomes, Human, Pair 17/genetics
MH  - *Chromosomes, Human, Pair 22/genetics
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - Infant
MH  - Proto-Oncogene Proteins/*genetics
MH  - Proto-Oncogene Proteins c-ets
MH  - Sarcoma, Ewing/diagnosis/*genetics
MH  - Soft Tissue Neoplasms/diagnosis/*genetics
MH  - *Translocation, Genetic
EDAT- 2012/03/21 06:00
MHDA- 2012/05/09 06:00
CRDT- 2012/03/21 06:00
PHST- 2010/06/12 00:00 [received]
PHST- 2012/01/13 00:00 [revised]
PHST- 2012/01/16 00:00 [accepted]
PHST- 2012/03/21 06:00 [entrez]
PHST- 2012/03/21 06:00 [pubmed]
PHST- 2012/05/09 06:00 [medline]
AID - S2210-7762(12)00036-1 [pii]
AID - 10.1016/j.cancergen.2012.01.007 [doi]
PST - ppublish
SO  - Cancer Genet. 2012 Jan-Feb;205(1-2):55-60. doi: 10.1016/j.cancergen.2012.01.007.