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Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation
Author(s) -
Janson Kristin,
Nedzi Lucien A.,
David Odile,
Schorin Marshall,
Walsh John W.,
Bhattacharjee Meena,
Pridjian Gabriella,
Tan Lu,
Judkins Alexander R.,
Biegel Jaclyn A.
Publication year - 2006
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20622
Subject(s) - atypical teratoid rhabdoid tumor , germline , smarcb1 , germline mutation , mutation , context (archaeology) , medicine , exon , genetics , pathology , biology , gene , medulloblastoma , paleontology , chromatin remodeling , chromatin
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 mutation in exon 4 of the INI1 gene that was inherited from their healthy mother. A maternal uncle died in childhood from a brain tumor and a malignant rhabdoid tumor of the kidney, and presumably carried the same germline mutation. As the mother and uncle had different fathers, the grandmother is also an obligate carrier of the mutation. Conclusion The identification of two unaffected carriers in a family segregating a germline mutation and rhabdoid tumor supports the hypothesis that there may be variable risks of development of rhabdoid tumor in the context of a germline mutation. There may be a developmental window in which most rhabdoid tumors occur. This family highlights the importance of mutation analysis in all patients with a suspected rhabdoid tumor. Pediatr Blood Cancer 2006;47:279–284. © 2005 Wiley‐Liss, Inc.