A novel t(2;20)(q35;p12) in embryonal rhabdomyosarcoma.
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.
Ho
Richard H
RH
Division of Pediatric Hematology/Oncology, Department of Pediatrics, Vanderbilt University Medical Center, 2220 Pierce Avenue, Nashville, TN 37232-6310, USA.
Johnson
Joyce
J
Dev
Vaithilingam G
VG
Whitlock
James A
JA
D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2; D002890:Chromosomes, Human, Pair 20; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D000072041:PAX3 Transcription Factor; D051761:Paired Box Transcription Factors; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
D004268:DNA-Binding Proteins; D000072041:PAX3 Transcription Factor; C489409:PAX3 protein, human; D051761:Paired Box Transcription Factors; D014157:Transcription Factors; C068686:Pax3 protein, mouse