Mutated Genes and Abnormal Protein Expression (11)
Recurrent Chromosome Abnormalities (3)
Overview of the Molecular Biology of Rhabdomyosarcoma
Childhood Soft Tissue Sarcoma: Clinical and Epidemiological Resources

t(12;15)(p13;q25) in Congenital Fibrosarcoma
t(2;13)(q35;q14) in Rhabdomyosarcoma
t(1;13)(p36;q14) in Rhabdomyosarcoma

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Recurrent Chromosome Abnormalities - Rhabdomyosarcoma (Cancer Genome Anatomy Project)

Rhabdomyosarcoma is the most common soft-tissue sarcoma of childhood. Common abnormalities seen in tumour cells include translocations involving FKHR and either the PAX3 or PAX7 genes. Specific translocations, t(2;13)(q35;q14) and variant t(1;13)(p36;q14) are most frequent in alveolar rhabdomyosarcoma, resulting in PAX3-FKHR and PAX7-FKHR fusion genes, respectively.

Amplification of MYCN, MDM2 and CDK4 genes occurs in some rhabdomyosarcomas. Other genes implicated in rhabdomyosarcoma include IGF2, ATR, PTCH, CDKN2A (P16 INK4A), CDKN2B, and TP53. A wide range of other chromosomal abnormalities have also been reported; particularly gain of material in chromosomes 2, 8, 12, and 13, which are associated with the embryonal subtype.

Anderson J, et al. Genes, chromosomes, and rhabdomyosarcoma Genes Chromosomes Cancer 1999; 26(4):275-285    Related articles (PubMed)

Merlino G, Helman LJ Rhabdomyosarcoma--working out the pathways. [Review] Oncogene 1999; 18(38):5340-8    Related articles (PubMed)

Boman F, et al. Gene alterations and apoptosis in rhabdomyosarcoma. Pediatr Pathol Lab Med 1997; 17(2):233-47    Related articles (PubMed)

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Childhood Soft Tissue Sarcoma Genetics
Childhood Soft Tissue Sarcoma : Clinical and Epidemiological Information