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Scientific article
English

A t(17;22)(q21;q12) with partial ETV4 deletion in a soft tissue Ewing sarcoma

Contributors

Rougemont-Pidoux, Anne-Laure; Bouron-Dal Soglio, Dorothée; Patey-Mariaud de Serre, Natacha; Fetni, Raouf; Fan, Li; Barrette, Stéphane; Fournet, Jean-Christophe

Published in

Cancer genetics, vol. 205, no. 1-2, p. 55-60

Publication date

2012

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.

Keywords

  • Adenovirus E1A Proteins/genetics
  • Chromosomes, Human, Pair 17/genetics
  • Chromosomes, Human, Pair 22/genetics
  • Female
  • Gene Deletion
  • Humans
  • Infant
  • Proto-Oncogene Proteins/genetics
  • Sarcoma, Ewing/diagnosis/genetics
  • Soft Tissue Neoplasms/diagnosis/genetics
  • Translocation, Genetic

UNIGE affiliation entities

Citation (ISO format)

ROUGEMONT-PIDOUX, Anne-Laure et al. A t(17;22)(q21;q12) with partial ETV4 deletion in a soft tissue Ewing sarcoma. In: Cancer genetics, vol. 205, n° 1-2, p. 55–60. doi: 10.1016/j.cancergen.2012.01.007

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Article (Published version)

Identifiers

Journal ISSN

2210-7762
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Technical informations

Creation

27/05/2013 11:25:00

First validation

27/05/2013 11:25:00

Update

14/03/2023 20:18:03

Status update

14/03/2023 20:18:03

Last indexation

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