Rhabdoid predisposition syndrome

Note	the following observations have suggested that a new cancer-prone disease, related to the gene hSNF5/INI, could be delineated: two siblings with a paravertebral malignant rhabdoid tumor in the first year of life and a poor outcome; no family history; renal rhabdoid tumors associated with tumors of the central nervous system in a given patient germ-line mutations of INI1 identified in four children, three with renal rhabdoid tumors and one with an atypical teratoid tumor of the brain (out of 18 atypical teratoid and rhabdoid tumors studied) and 4 recent pedigrees with - malignant rhabdoid tumor, choroid plexus carcinoma, atypical teratoid tumor, medulloblastoma, and/or primitive neuroectodermal tumor, - either occurring in sibs or in a given patient, - with a INI1 point mutation in the tumor DNA and loss of wild type allele and/or heterozygosity for the mutation in constitutional DNA
Phenotype and clinics	no apparent stigmata
Neoplastic risk	malignant rhabdoid tumors and atypical teratoid tumors, choroid plexus carcinomas, medulloblastomas, and primitive neuroectodermal tumors; highly aggressive tumors; very early onset in children or infants, and, apparently , high penetrance

Genes involved and Proteins

 

Gene Name	hSNF5/INI1
Location	22q11.2

Mutations
Germinal	found in this syndrome
Somatic	mutation and allele loss events in sporadic rhabdoid tumors, primitive neurectodermal tumors, medulloblastoma, or choroid plexus carcinoma are in accordance with the two-hit model for neoplasia, as is found in retinoblastoma

External links

GeneCards	SMARCB1
GDB	SMARCB1
OMIM	601607
HGMD	593871

Bibliography

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Cancer 1983; 52: 290-296.

PMID 83232583

Rhabdoid tumor of the kidney with primitive neuroectodermal tumor of the central nervous system: associated tumors with different histologic, cytogenetic, and molecular findings.

Fort DW, Tonk VS, Tomlinson GE, Timmons CF, Schneider NR.

Genes Chromosomes Cancer 1994; 11: 146-152.

PMID 95134706

Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors.

Biegel JA, Zhou JY, Rorke LB, Stenstrom C, Wainwright LM, Fogelgren B.

Cancer Res 1999; 59: 74-79.

PMID 99107207

Constitutional Mutations of the hSNF5/INI1 Gene Predispose to a Variety of Cancers

S»venet N, Sheridan E, Amram D, Schneider P, Handgretinge Rupert, Delattre O.

Am J Hum Genet 1999; 65:1342-1348.

PMID 99452595

Spectrum of hSNF5/INI1 mutations in human cancer and genotype-phenotype correlations.

S»venet N, Lellouch-Tubiana A, Schofield D, Hoang-Xuan K, Gessler M, Birnbaum D, Jeanpierre C, Jouvet A, Delattre O.

Human Molecular Genetics 1999; 8: 2359-2368.

PMID 20025744

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Contributor(s)

Written	03-1999	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated	01-2000	Jean-Loup Huret
Affiliation	DATE 01-2000 AUTHORS Jean-Loup Huret
Updated	02-2000	Nicolas Sévenet
Affiliation	DATE 02-2000 AUTHORS Nicolas Sévenet

Citation

This paper should be referenced as such :

Huret JL . Rhabdoid predisposition syndrome. Atlas Genet Cytogenet Oncol Haematol. March 1999 . URL : http://AtlasGeneticsOncology.org/Kprones/rhabdKpronID10051.html

Huret JL . Rhabdoid predisposition syndrome. Atlas Genet Cytogenet Oncol Haematol. January 2000 . URL : http://AtlasGeneticsOncology.org/Kprones/rhabdKpronID10051.html

Sévenet N . Rhabdoid predisposition syndrome. Atlas Genet Cytogenet Oncol Haematol. February 2000 . URL : http://AtlasGeneticsOncology.org/Kprones/rhabdKpronID10051.html

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indexed on : Thu Apr 17 14:14:15 2008

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