KEGG DISEASE: Rhabdoid predisposition syndrome

KEGG

DISEASE: Rhabdoid predisposition syndrome

Entry

H01134                      Disease

Name

Rhabdoid predisposition syndrome

Description

Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally resulting in atypical teratoid rhabdoid tumors (AT/RTs) in the central nervous system and malignant rhabdoid tumors in the kidney or retroperitoneum. The vast majority demonstrate biallelic somatic inactivation of the SMARCB1 tumor suppressor within tumor cells. Mutations in SMRCA4 gene have also been identified.

Category

Cancer

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Neoplasms of uncertain behaviour, except of lymphoid, haematopoietic, central nervous system or related tissues
   2F7Y  Neoplasms of uncertain behaviour of other specified site
    H01134  Rhabdoid predisposition syndrome

Pathway

ATP-dependent chromatin remodeling

Gene

(RTPS1) SMARCB1 [HSA:6598] [KO:K11648]
(RTPS2) SMARCA4 [HSA:6597] [KO:K11647]

Other DBs

ICD-11:

MeSH:

C563738 C567643

OMIM:

Reference

Authors

Harris TJ, Donahue JE, Shur N, Tung GA

Title

Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children.

Journal

Radiology 259:298-302 (2011)
DOI:10.1148/radiol.10092219

Reference

PMID:21208904 (RTPS1)

Authors

Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F, Andre N, Stephan JL, Perel Y, Oberlin O, Orbach D, Bergeron C, Rialland X, Freneaux P, Ranchere D, Figarella-Branger D, Audry G, Puget S, Evans DG, Pinas JC, Capra V, Mosseri V, Coupier I, Gauthier-Villars M, Pierron G, Delattre O

Title

Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor.

Journal

Clin Cancer Res 17:31-8 (2011)
DOI:10.1158/1078-0432.CCR-10-1795

Reference

PMID:20137775 (RTPS2)

Authors

Schneppenheim R, Fruhwald MC, Gesk S, Hasselblatt M, Jeibmann A, Kordes U, Kreuz M, Leuschner I, Martin Subero JI, Obser T, Oyen F, Vater I, Siebert R

Title

Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

Journal

Am J Hum Genet 86:279-84 (2010)
DOI:10.1016/j.ajhg.2010.01.013

LinkDB

» Japanese version

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