| H01134 | |
| H番号 | H01134 |
| 名称 | Rhabdoid predisposition syndrome |
| 概要 | 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. |
| カテゴリ | がん |
| ネットワーク | - |
| 病因遺伝子 | (RTPS1) SMARCB1 [HSA:6598] [KO:K11648] (RTPS2) SMARCA4 [HSA:6597] [KO:K11647] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 2F7Y MeSH: C563738 C567643 OMIM: 609322 613325 |
| 文献 | PMID:21436099 著者 Harris TJ, Donahue JE, Shur N, Tung GA タイトル Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children. 雑誌 Radiology 259:298-302 (2011) DOI:10.1148/radiol.10092219 PMID:21208904 (RTPS1) 著者 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 タイトル Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. 雑誌 Clin Cancer Res 17:31-8 (2011) DOI:10.1158/1078-0432.CCR-10-1795 PMID:20137775 (RTPS2) 著者 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 タイトル Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. 雑誌 Am J Hum Genet 86:279-84 (2010) DOI:10.1016/j.ajhg.2010.01.013 |