Characterization of a Wilms tumor in a 9-year-old girl with trisomy 18

✍ Scribed by Carol E. Anderson; Hope H. Punnett; Vicki Huff; Jean-Pierre de Chadarévian

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 123 KB
• Volume: 121A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.20141

✦ Synopsis

Abstract

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.