Ja. Biegel et al., Germline INII mutation in a patient with a central nervous system atypicalteratoid tumor and renal rhabdoid tumor, GENE CHROM, 28(1), 2000, pp. 31-37
We describe a four-month-old child who presented with an atypical teratoid/
rhabdoid tumor of the brain and subsequently developed a renal rhabdoid tum
or. Distinct histologic features, immunophenotypic profiles, and deletions
of chromosome 22 were supportive of two primary tumors. An identical mutati
on in exon 7 of the INI1 rhabdoid tumor suppressor gene was identified in b
oth tumors, as well as in normal kidney tissue. We propose that this germli
ne INI1 mutation predisposed the child to the development of both malignanc
ies. These findings lend support to the hypothesis that rhabdoid tumors in
all sites have a common genetic etiology. Genes Chromosomes Cancer 28:31-37
, 2000. (C) 2000 Wiley-Liss, Inc.