H00037 | |
H number | H00037 |
Name | Rhabdomyosarcoma |
Description | Rhabdomyosarcomas (RMSs) are soft tissue sarcomas that are one of the most common neoplasms in children and adolescents. RMSs are presumed to be associated with the skeletal muscle lineage, although those tumors can be present in organs histologically lacking skeletal muscle, like prostate, urinary bladder or gallbladder. RMS is divided into two major subtypes: embryonal (ERMS) and alveolar (ARMS). Alveolar rhabdomyosarcoma (ARMS) is a pediatric sarcoma that typically occurs in older children predominantly arising in the trunk and extremities, and exhibits a worse prognosis than other types of RMSs. ARMS is associated with 2;13 or 1;13 chromosomal translocations, which generate PAX3-FOXO1A and PAX7-FOXO1A fusion products, respectively. These translocations result in altered expression, function, and subcellular localization of the fusion products relative to the wild-type proteins, and ultimately contribute to oncogenic behavior by modifying growth, differentiation, and apoptosis pathways. |
Category | Cancer |
Network | - |
Gene | PAX3-FOXO1 (translocation) [HSA:5077 2308] [KO:K09381 K07201] PAX7-FOXO1 (translocation) [HSA:5081 2308] [KO:K09381 K07201] MDM2 (amplification) [HSA:4193] [KO:K06643] SLC22A18 [HSA:5002] [KO:K08214] DICER1 [HSA:23405] [KO:K11592] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | Vincristine sulfate [DR:D02197] Dactinomycin [DR:D00214] |
Comment | - |
Other DBs | ICD-11: 2B55 ICD-10: C49 MeSH: D018232 OMIM: 268210 180295 |
Reference | PMID:19008039 AUTHORS Charytonowicz E, Cordon-Cardo C, Matushansky I, Ziman M TITLE Alveolar rhabdomyosarcoma: is the cell of origin a mesenchymal stem cell? JOURNAL Cancer Lett 279:126-36 (2009) DOI:10.1016/j.canlet.2008.09.039 PMID:12170781 AUTHORS Xia SJ, Pressey JG, Barr FG TITLE Molecular pathogenesis of rhabdomyosarcoma. JOURNAL Cancer Biol Ther 1:97-104 (2002) DOI:10.4161/cbt.51 PMID:11378650 AUTHORS Letson GD, Muro-Cacho CA. TITLE Genetic and molecular abnormalities in tumors of the bone and soft tissues. JOURNAL Cancer Control 8:239-51 (2001) DOI:10.1177/107327480100800304 PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 PMID:10516379 AUTHORS Fisher C. TITLE Current aspects of the pathology of soft tissue sarcomas. JOURNAL Semin Radiat Oncol 9:315-27 (1999) DOI:10.1053/SRAO00900315 PMID:16365729 (PAX3-FOXO1 PAX7-FOXO1) AUTHORS Krskova L, Mrhalova M, Sumerauer D, Kodet R. TITLE Rhabdomyosarcoma: molecular diagnostics of patients classified by morphology and immunohistochemistry with emphasis on bone marrow and purged peripheral blood progenitor cells involvement. JOURNAL Virchows Arch 448:449-58 (2006) DOI:10.1007/s00428-005-0124-y PMID:23766666 (MDM2) AUTHORS Kikuchi K, Wettach GR, Ryan CW, Hung A, Hooper JE, Beadling C, Warrick A, Corless CL, Olson SB, Keller C, Mansoor A TITLE MDM2 Amplification and PI3KCA Mutation in a Case of Sclerosing Rhabdomyosarcoma. JOURNAL Sarcoma 2013:520858 (2013) DOI:10.1155/2013/520858 PMID:15239143 (SLC22A18) AUTHORS Albrecht S, Hartmann W, Houshdaran F, Koch A, Gartner B, Prawitt D, Zabel BU, Russo P, Von Schweinitz D, Pietsch T TITLE Allelic loss but absence of mutations in the polyspecific transporter gene BWR1A on 11p15.5 in hepatoblastoma. JOURNAL Int J Cancer 111:627-32 (2004) DOI:10.1002/ijc.20280 PMID:21882293 (DICER1) AUTHORS Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR TITLE Extending the phenotypes associated with DICER1 mutations. JOURNAL Hum Mutat 32:1381-4 (2011) DOI:10.1002/humu.21600 |