Article
Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation.
Pediatric blood & cancer - 1 Sept 2006
Janson Kristin, Nedzi Lucien A, David Odile, Schorin Marshall, Walsh John W, Bhattacharjee Meena, Pridjian Gabriella, Tan Lu, Judkins Alexander R, Biegel Jaclyn A
Abstract excerpt
BACKGROUND: Germline mutations of the INI1 gene predispose children to the development of rhabdoid tumors. Reports of familial cases, however, are extremely rare. PROCEDURE: We have identified a three-generation family in which two half-brothers were diagnosed with central nervous system atypical teratoid/rhabdoid tumors (AT/RT). The two boys, diagnosed at 2 months and 17 months of age, had a germline insertion...
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