Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18.
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.
Anderson
Carol E
CE
Department of Pediatrics, Section of Clinical Genetics, Drexel University College of Medicine and St. Christopher's Hospital for Children, Philadelphia, Pennsylvania 19134, USA.
Punnett
Hope H
HH
Huff
Vicki
V
de Chadarévian
Jean-Pierre
JP
D002648:Child; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D006801:Humans; D018404:Isochromosomes / Q000235:genetics*; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014314:Trisomy / Q000235:genetics*; D009396:Wilms Tumor / Q000235:genetics* / Q000473:pathology