Familial or individual associations of
malignant rhabdoid tumor
cerebral atypical teratoid/rhabdoid tumor
spinal canal or cerebral primitive neuroectodermal tumor (cPNET)
Etiology
2 loci
germline SMARCB1 mutations
other locus unknown
References
Jackson EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel JA. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum Genet. 2007 Sep;122(2):117-27. PMID: 17541642
Frühwald MC, Hasselblatt M, Wirth S, Köhler G, Schneppenheim R, Subero JI, Siebert R, Kordes U, Jürgens H, Vormoor J. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer. 2006 Sep;47(3):273-8. PMID: 16206192
Lee HY, Yoon CS, Sevenet N, Rajalingam V, Delattre O, Walford NQ. Rhabdoid tumor of the kidney is a component of the rhabdoid predisposition syndrome. Pediatr Dev Pathol. 2002 Jul-Aug;5(4):395-9. PMID: 12016529
Fruhwald MC, Hasselblatt M, Wirth S, Kohler G, Schneppenheim R, Subero JI, Siebert R, Kordes U, Jurgens H, Vormoor J. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer. 2005 Oct 3; PMID: 16206192
Vries RG, Bezrookove V, Zuijderduijn LM, Kia SK, Houweling A, Oruetxebarria I, Raap AK, Verrijzer CP. Cancer-associated mutations in chromatin remodeler hSNF5 promote chromosomal instability by compromising the mitotic checkpoint. Genes Dev. 2005 Mar 15;19(6):665-70. PMID: 15769941
Frühwald MC, Hasselblatt M, Wirth S, Köhler G, Schneppenheim R, Subero JI, Siebert R, Kordes U, Jürgens H, Vormoor J. Non-linkage of familial rhabdoid tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr Blood Cancer. 2006 Sep;47(3):273-8. PMID: 16206192
Kusafuka T, Miao J, Yoneda A, Kuroda S, Fukuzawa M. Novel germ-line deletion of SNF5/INI1/SMARCB1 gene in neonate presenting with congenital malignant rhabdoid tumor of kidney and brain primitive neuroectodermal tumor. Genes Chromosomes Cancer. 2004 Jun;40(2):133-9. PMID: 15101046
Fujisawa H, Takabatake Y, Fukusato T, Tachibana O, Tsuchiya Y, Yamashita J. Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification. J Neurooncol. 2003 Jul;63(3):257-62. PMID: 12892231
Izycka-Swieszewska E, Debiec-Rychter M, Wasag B, Wozniak A, Gasecki D, Plata-Nazar K, Bartkowiak J, Lasota J, Limon J. A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her father. J Neurooncol. 2003 Feb;61(3):219-25. PMID: 12675315
Biegel JA, Fogelgren B, Wainwright LM, Zhou JY, Bevan H, Rorke LB. Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor. Genes Chromosomes Cancer. 2000 May;28(1):31-7. PMID: 10738300
Taylor MD, Gokgoz N, Andrulis IL, Mainprize TG, Drake JM, Rutka JT. Familial posterior fossa brain tumors of infancy secondary to germline mutation of the hSNF5 gene. Am J Hum Genet. 2000 Apr;66(4):1403-6. PMID: 10739763
Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet. 1999 Nov;65(5):1342-8. PMID: 10521299