Molecular biology of rhabdomyosarcoma

S. Gallego Melcón*, J. Sánchez de Toledo Codina

*Corresponding author for this work

Research output: Contribution to journalArticleResearchpeer-review

42 Citations (Scopus)


Rhabdomyosarcoma (RMS) is one of the most common extracranial solid tumours in children. Embryonal and alveolar subtypes of RMS present completely different genetic abnormalities. Embryonal RMS (eRMS) is characterised by loss of heterozygosity on the short arm of chromosome 11 (11p15.5), suggesting inactivation of a tumour-suppressor gene. In contrast, the majority (80-85%) of the alveolar RMS (aRMS) have the reciprocal chromosomal translocations 't(2;13)(q35;q14) or t(1;13)(p36;q14). t(2;13) appears in approximately 70% of patients with the alveolar subtype. The molecular counterpart of this translocation consists of the generation of a chimeric fusion gene involving the /PAX3/ gene located in chromosome 2 and a member of the fork-head family, /FOXO1/ (formerly /FKHR/), located in chromosome 13. A less frequent variant translocation t(1;13) involves another PAX family gene, /PAX7/, located in chromosome 1 and /FOXO1/ and is present in 10-15% of cases of the alveolar subtype in RMS. Recently, many studies focused on cancer have demonstrated the great potential of the genomic approach based on tumour expression profiles. These technologies permit the identification of new regulatory pathways. Molecular detection of minimal disease by a sensitive method could contribute to better treatment stratification in these patients. In RMS, the advances in the knowledge of the biological characteristics of the tumour are slowly translated into the clinical management of children with this tumour.

Original languageAmerican English
Pages (from-to)415-419
Number of pages5
JournalClinical and Translational Oncology
Issue number7
Publication statusPublished - 2007


  • Genetic abnormalities
  • Minimal disseminated disease
  • Rhabdomyosarcoma


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