Epidemiology

Rare localizations

 bladder
 uterine cervix (#14599884#)
 prostate
 spermatic cord
 biliary tract, ampulla of Vater (#2286899#)
 orbite
 long bones (#8554114#), mandible (#12598923#)

Predisposition

 Li-Fraumeni syndrome (TP53 germline mutations) (#16206219#)
 variegated mosaic aneuploidy syndrome (#14608201#)

CGH (#11807989#)

Allelotype (#9315099#)

 11q LOH
 11p15.5 LOH

Molecular biology

 disruption of imprinted genes at chromosome region 11p15.5 (#10935489#)

• mutations in SLC22A1L gene (BWR1A) at 11p15.5

 mutations in PTCH1 gene coding for Patched-1 at 9q22.3

Genomic amplification

 IGF1R (insulin-like growth factor type I receptor) at 15q25-26 (15q25-26 amplicon)

Cytogenetics

 trisomy 2, trisomy 8, trisomy 13
 Chr.1 rearrangements
 der(2)t(2;7)(q36-q37;q3?) (#12550761#)
 del(14)(q24) (#12550761#)
 der(16)t(1;16)(q21;q13) (#12550761#)

Expression profiling (#12845631#)

Differential diagnosis

 alveolar rhabdomyosarcoma

• embryonal-like alveolar rhabdomyosarcoma (#15120913#)

 rhabdomyoma

See also

 Tumors

• skeletal muscle tumors
  • rhabdomyosarcomas
    • Patched-associated rhabdomyosarcoma (#12845631#)
    • alveolar rhabdomyosarcoma

References

 Anderson J, Gordon A, Pritchard-Jones K, Shipley J. Genes, chromosomes, and rhabdomyosarcoma. Genes Chromosomes Cancer. 1999 Dec;26(4):275-85. Review. PMID: #10534762#