Rhabdoid predisposition syndrome

Definition:

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.

References:

[1]. Franck Bourdeaut, et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res. 2011 Jan 1;17(1):31-8. [Content Brief]

[2]. Reinhard Schneppenheim, et al. Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010 Feb 12;86(2):279-84. [Content Brief]

[3]. Tyler J Harris, et al. Case 168: rhabdoid predisposition syndrome--familial cancer syndromes in children. Radiology. 2011 Apr;259(1):298-302. [Content Brief]

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