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A number of molecular as well as histological abnormalities occur in the various subtypes of rhabdomyosarcoma (RMS):

N-Myc is over-expressed in embryonal RMS and C-Myc in alveolar rhabdomyosarcoma.

Embryonal RMS:

  • Embryonal RMS does not have recurrent structural chromosome rearrangements, but has frequent chromosome gains (most notable gains in ERMS are chromosomes 2, 8, 11, 12, 13, and 20).
  • Has a loss of heterozygosity at the 11p15 locus; with duplication of paternal genetic material and loss of maternal genetic material.
  • The N-Ras and K-Ras genes are mutated in 35% of embryonal RMS

Alveolar RMS:

  • 70% of alveolar RMS cases contain one of two recurrent chromosomal translocations: t(2;13)(q35;q14) or less commonly t(1;13)(p36;q14).  These translocations do not occur in embryonal RMS.
  • In disseminated disease, the translocation t(2;13)(q35;q14) is associated with a poorer prognosis.



General RMS at the Atlas of Genetics and Cytogenetics in Oncology and Haematology



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