Rhabdoid Predisposition Syndrome

Rhabdoid tumor cell.
Hematoxylin-eosin stained section. Original magnification 1: 400

The Rhabdoid-predisposition syndrome is a rare syndrome in which there is a family history of malignant tumors in the brain, kidney and other tissues, as rhabdoid atypical teratoider / tumor and malignant rhabdoid tumors are called.

genetics

Genetically, in the majority of the families there are genetic changes in the SMARCB1 (hSNF5 / INI1) gene, a subset of the SWI / SNF chromatin remodeling complex , which lead to a reduced nuclear expression of the INI1 protein (RTPS1). The rhabdoid predisposition syndrome also occurs less frequently in connection with genetic changes in SMARCA4 (BRG1), a gene that codes for another subdivision of the SWI / SNF chromatin remodeling complex (RTPS2).

Web link

Rhabdoid Predisposition Syndrome 1. In: Online Mendelian Inheritance in Man . (English)

Rhabdoid Predisposition Syndrome 2. In: Online Mendelian Inheritance in Man . (English)

Individual evidence

^ JM Bonnin, LJ Rubinstein, NF Palmer, JB Beckwith: The association of embryonal tumors originating in the kidney and in the brain. A report of seven cases. In: Cancer 54, 1984, pp. 2137-2146, PMID 6091860 .
^ R. Schneppenheim, MC Frühwald, S. Gesk, M. Hasselblatt, A. Jeibmann, U. Kordes, M. Kreuz, I. Leuschner, JI Martin Subero, T. Obser, F. Oyen, I. Vater, R. Siebert: Germline nonsense mutation and somatic inactivation of SMARCA4 / BRG1 in a family with rhabdoid tumor predisposition syndrome. In: Am. J. Hum. Genet. 86, 2010, pp. 279-284, PMID 20137775 PMC 282019 (free full text).

[PMID6091860-1] JM Bonnin, LJ Rubinstein, NF Palmer, JB Beckwith: The association of embryonal tumors originating in the kidney and in the brain. A report of seven cases. In: Cancer 54, 1984, pp. 2137-2146, PMID 6091860 .

[PMID20137775-2] R. Schneppenheim, MC Frühwald, S. Gesk, M. Hasselblatt, A. Jeibmann, U. Kordes, M. Kreuz, I. Leuschner, JI Martin Subero, T. Obser, F. Oyen, I. Vater, R. Siebert: Germline nonsense mutation and somatic inactivation of SMARCA4 / BRG1 in a family with rhabdoid tumor predisposition syndrome. In: Am. J. Hum. Genet. 86, 2010, pp. 279-284, PMID 20137775 PMC 282019 (free full text).