A novel t(2;20)(q35;p12) in embryonal rhabdomyosarcoma.

Ho RH, Johnson J, Dev VG, Whitlock JA
Cancer Genet Cytogenet. 2004 151 (1): 73-7

PMID: 15120913 · DOI:10.1016/j.cancergencyto.2003.08.023

Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma of childhood, accounting for 5%-8% of all pediatric malignancies. RMS can be categorized into several subtypes, including embryonal RMS (ERMS), the botryoid and spindle cell variants of ERMS, and alveolar RMS (ARMS). The t(2;13)(q35;q14) and the variant t(1;13)(p36;q14) are seen in a majority of ARMS cases. In contrast, the embryonal subtype of rhabdomyosarcoma has not been associated with a recurring chromosomal translocation. We describe here a novel chromosomal t(2;20)(q35;p12) occurring in a case of childhood RMS with embryonal histology. It is notable that this translocation harbors breakpoints at or near the locus of the PAX3 gene, which is involved in the most common recurring translocation associated with ARMS.

MeSH Terms (12)

Child, Preschool Chromosomes, Human, Pair 2 Chromosomes, Human, Pair 20 DNA-Binding Proteins Female Humans Karyotyping Paired Box Transcription Factors PAX3 Transcription Factor Rhabdomyosarcoma, Embryonal Transcription Factors Translocation, Genetic

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