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Cancer Genet Cytogenet. 2009 May;191(1):43-5. doi: 10.1016/j.cancergencyto.2009.01.010.

Translocation (2;8)(q35;q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma.

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  • 1Department of Cytogenetics, Quest Diagnostics Nichols Institute, 14225 Newbrook Drive, Chantilly, VA 20151, USA. aurelia.m.meloni-ehrig@questdiagnostics.com

Abstract

We report a case of congenital embryonal rhabdomyosarcoma (ERMS), a rare form of rhabdomyosarcoma, featuring a karyotype with a t(2;8)(q35;q13) in a 2-week-old male infant. This is the third reported case of congenital ERMS with cytogenetic findings. The previous cases also showed a similar or possibly identical translocation. We postulate that the t(2;8)(q35;q13) is a specific abnormality in congenital ERMS, and that it involves the PAX3 gene at 2q35 and a non-yet identified gene at 8q13.

PMID:
19389508
[PubMed - indexed for MEDLINE]
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