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GENATLAS PHENOTYPE
last update : 13/06/2006
Symbol ARMS
Location 1p36.13 or 2q36.1 and 13q14.11
Name alveolar rhabdomyosarcoma
Corresponding gene PAX7 , PAX3 , FOXO1
Other symbol(s) RMS2, RMSA
Main clinical features
  • soft tissue tumors related to the skeletal muscle lineage that occur in children and young adults
    • Genetic determination
    Function/system disorder neoplasia
    Type malignancy
    Gene product
    Name fusion transcripts PAX3-FKHR and PAX7-FKHR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      translocation other acquired t(2;13)(q35;q14), most common with frequent genomic amplification
      translocation other acquired t(1;13)(p36;q14)less frequent and rarely amplified
      other   double minutes (dm)with amplification of MDM, SAS, CDK4 genes
      other   MYCN amplification
    Remark(s) 20 percent without detectable characteristic fusion transcripts
    Genotype/Phenotype correlations expression of PAX3-FKHR and PAX7-FKHR identifies a very high-risk subgroup and a favorable outcome subgroup, respectively, among patients presenting with metastatic ARMS. A non-coding RNA (NCRMS) may differentiate two subtypes of rhabdomyosarcoma