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

✍ Scribed by Jaclyn A. Biegel; Benjamin Fogelgren; Luanne M. Wainwright; Jun-Ying Zhou; Herbert Bevan; Lucy B. Rorke

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 222 KB
Volume: 28
Category: Article
ISSN: 1045-2257
DOI: 10.1002/(sici)1098-2264(200005)28:1<31::aid-gcc4>3.0.co;2-y

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✦ Synopsis

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.

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