Complex rearrangement of chromosomes 1, 7, 21, 22 in Ewing sarcoma

Cancer Genetics and Cytogenetics
Natini JinawathKathleen M Murphy

Abstract

The Ewing sarcoma (ES) family of tumors is characterized by nonrandom chromosomal translocations involving the EWSR1 gene on chromosome 22 with one of the members of the ETS family of transcription factors. The majority of ES tumors are characterized by a balanced translocation t(11;22)(q24;q12), which results in the fusion of the 5' portion of EWSR1 gene with the 3'end of the FLI1 gene. Fusions with ERG, another member of the ETS family, occur in less than 10% of ES tumors, and can arise through complex chromosomal rearrangements. Here, we report a case of a 5-year-old female with an ES tumor in the thoracic region. G-banding and spectral karyotyping analysis demonstrated 46,XX,t(1;21;7)(q25;q22.3;q22). Metaphase fluorescence in situ hybridization (FISH) using the EWSR1 break-apart probe demonstrated a normal signal on both apparently normal chromosomes 22, and an additional EWSR1-5' signal on the derivative chromosome 21. Reverse-transcriptase polymerase chain reaction analysis of RNA isolated from the tumor demonstrated a EWSR1-ERG fusion transcript, fusing exon 7 of EWSR1 and exon 11 of ERG. These results are consistent with an additional copy of the 5' portion of EWSR1, which inverted and then inserted on chromosome 21 and...Continue Reading

References

Mar 1, 1997·Genes, Chromosomes & Cancer·Y KanekoN Maseki
Jul 28, 2001·Cytogenetics and Cell Genetics·C M HattingerP F Ambros
Dec 19, 2006·Cancer Genetics and Cytogenetics·Károly SzuhaiPancras C W Hogendoorn
Oct 18, 2008·Expert Review of Anticancer Therapy·Susan Ann Burchill

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Citations

Mar 20, 2012·Orthopaedics & Traumatology, Surgery & Research : OTSR·S BaccariL Tarhouni
Feb 5, 2019·International Journal of Surgical Pathology·Derek Tsz Wai YauAlexander Chak Lam Chan
Jan 22, 2017·Pathology Oncology Research : POR·Gergő PappZoltán Sápi
Jun 10, 2011·Current Opinion in Oncology

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