Solid variant of alveolar rhabdomyosarcoma with unbalanced t(2;13) and hypotetraploidy, without MYCN amplification.
The histological subtype of alveolar rhabdomyosarcoma (AR) is characterised by the cytogenetic translocation t(2;13)(q35;q14) in approximately 70% of cases, a rearrangement rarely present in the embryonal rhabdomyosarcoma (ER) subtype. The MYCN gene is amplified in some cases of AR. We present a young man with an unusual pattern, namely solid variant of AR with hypotetraploidy and the t(2;13) in an unbalanced form. The MYCN gene was not amplified on FISH, but showed increased copy number, consistent with ploidy.
Department of Cytogenetics, Royal Alexandra Hospital for Children, Westmead, NSW, Australia.
A
A
Smith
P
P
Sharma
J
J
Tomlinson
L
L
Robson
A
A
Goldrick
D000328:Adult; D000782:Aneuploidy; D002478:Cells, Cultured; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D003131:Combined Modality Therapy; D004273:DNA, Neoplasm / Q000032:analysis; D003893:Desmin / Q000032:analysis; D017809:Fatal Outcome; D005784:Gene Amplification; D016259:Genes, myc; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D019042:Muscle Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D018232:Rhabdomyosarcoma, Alveolar / Q000737:chemistry / Q000235:genetics* / Q000556:secondary / Q000628:therapy; D013120:Spinal Cord Neoplasms / Q000556:secondary; D014178:Translocation, Genetic; D014746:Vimentin / Q000032:analysis
D004273:DNA, Neoplasm; D003893:Desmin; D014746:Vimentin