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Genes Chromosomes Cancer. 2000 May;28(1):31-7.

Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor.

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Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.


We describe a four-month-old child who presented with an atypical teratoid/rhabdoid tumor of the brain and subsequently developed a renal rhabdoid tumor. Distinct histologic features, immunophenotypic profiles, and deletions of chromosome 22 were supportive of two primary tumors. An identical mutation in exon 7 of the INI1 rhabdoid tumor suppressor gene was identified in both tumors, as well as in normal kidney tissue. We propose that this germline INI1 mutation predisposed the child to the development of both malignancies. These findings lend support to the hypothesis that rhabdoid tumors in all sites have a common genetic etiology.

[Indexed for MEDLINE]

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