title: A t(17;22)(q21;q12) with partial ETV4 deletion in a soft tissue Ewing sarcoma.
abstract: 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.
authors.affiliation: Department of Pathology, Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec, Canada. anne-laure.rougemont@hcuge.ch
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Rougemont
authors.forename: Dorothée
authors.initials: D
authors.lastname: Bouron-Dal Soglio
authors.forename: Natacha
authors.initials: N
authors.lastname: Patey-Mariaud de Serre
authors.forename: Raouf
authors.initials: R
authors.lastname: Fetni
authors.forename: Li
authors.initials: L
authors.lastname: Fan
authors.forename: Stéphane
authors.initials: S
authors.lastname: Barrette
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Fournet
mesh_terms: D017500:Adenovirus E1A Proteins / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D050783:Proto-Oncogene Proteins c-ets; D012512:Sarcoma, Ewing / Q000175:diagnosis / Q000235:genetics*; D012983:Soft Tissue Neoplasms / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D017500:Adenovirus E1A Proteins; C079853:ETV4 protein, human; D011518:Proto-Oncogene Proteins; D050783:Proto-Oncogene Proteins c-ets