KEGG DISEASE: Rhabdomyosarcoma

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 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

MeSH:

D018232

OMIM:

268210 180295 268220

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

Reference

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

Reference

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

Reference

PMID:12951587

Authors

Helman LJ, Meltzer P.

Title

Mechanisms of sarcoma development.

Journal

Nat Rev Cancer 3:685-94 (2003)
DOI:10.1038/nrc1168

Reference

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

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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Disease (3)   
   OMIM (3)   
All databases (3)   

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