KEGG   DISEASE: RhabdomyosarcomaHelp
Entry
H00037                      Disease                                

Name
Rhabdomyosarcoma
  Subgroup
Alveolar 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 comprises a heterogeneous into two major histologic 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 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-accociated carbohydrates [br08441.html]
 H00037
BRITE hierarchy
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
N00141  PAX3-FOXO1 fusion to transcriptional activation
Gene
PAX3-FOXO1A (translocation) [HSA:2308] [KO:K07201]
PAX7-FOXO1A (translocation) [HSA:2308] [KO:K07201]
MDM2 (amplification) [HSA:4193] [KO:K06643]
ATR (amplification) [HSA:545] [KO:K06640]
Drug
Dactinomycin [DR:D00214]
Comment
ICD-O: 8920/3, Tumor type: Alveolar rhabdomyosarcoma
Other DBs
ICD-11: 2B55
ICD-10: C49
MeSH: D018232
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
PMID:11378650 (gene, tumor type)
  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 (marker)
  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:11007039 (marker)
  Authors
Kumar S, Perlman E, Harris CA, Raffeld M, Tsokos M.
  Title
Myogenin is a specific marker for rhabdomyosarcoma: an immunohistochemical study in paraffin-embedded tissues.
  Journal
Mod Pathol 13:988-93 (2000)
DOI:10.1038/modpathol.3880179
Reference
PMID:12039929 (marker)
  Authors
Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, Bridge JA, Crist WM, Triche TJ, Barr FG.
  Title
PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from the children's oncology group.
  Journal
J Clin Oncol 20:2672-9 (2002)
DOI:10.1200/JCO.2002.03.137

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