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Characterization of a Wilms tumor in a 9‐year‐old girl with trisomy 18
Author(s) -
Anderson Carol E.,
Punnett Hope H.,
Huff Vicki,
de Chadarévian JeanPierre
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20141
Subject(s) - isochromosome , wilms' tumor , trisomy , loss of heterozygosity , carcinogenesis , trisomy 8 , biology , karyotype , pathology , chromosome , genetics , medicine , cancer , gene , allele
This is a report of a trisomy 18 patient who developed Wilms tumor in conjunction with perilobar nephroblastomatosis (NB) at 9 years and 5 months of age. Review of the literature revealed that most patients with trisomy 18 who develop Wilms tumor, do so at a later than expected age for a tumor related to NB, and are females. In this case, no chromosome 11 WT1 mutation was detected by PCR/SSCP analysis, but the tumor had in addition to the trisomy, an isochromosome 7q and loss of heterozygosity at 16q, two mutations that have been linked independently to Wilms tumorigenesis. © 2003 Wiley‐Liss, Inc.
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