KEGG   DISEASE: Rhabdomyosarcoma
Entry
H00037                      Disease                                
Name
Rhabdomyosarcoma
  Subgroup
Alveolar rhabdomyosarcoma
Embryonal rhabdomyosarcoma
  Supergrp
Solid tumor [DS:H02421]
Soft tissue sarcomas [DS:H02427]
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
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of soft tissues and bone
   H00037  Rhabdomyosarcoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant mesenchymal neoplasms
     2B55  Rhabdomyosarcoma, primary site
      H00037  Rhabdomyosarcoma
Cancer-associated carbohydrates [br08441.html]
 H00037
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]
Drug
Vincristine sulfate [DR:D02197]
Dactinomycin [DR:D00214]
Other DBs
ICD-11: 2B55
ICD-10: C49
MeSH: D018232
OMIM: 268210 180295
Reference
  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
Reference
  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
Reference
  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
Reference
  Authors
Helman LJ, Meltzer P.
  Title
Mechanisms of sarcoma development.
  Journal
Nat Rev Cancer 3:685-94 (2003)
DOI:10.1038/nrc1168
Reference
  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
Reference
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
Reference
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
Reference
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
Reference
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
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