✦ LIBER ✦

A clinical overview of WT1 gene mutations

✍ Scribed by Melissa Little; Christine Wells

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 250 KB
Volume: 9
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)9:3<209::aid-humu2>3.0.co;2-2

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✦ Synopsis

Mutations in the WT1 gene were anticipated to explain the genetic basis of the childhood kidney cancer, Wilms' tumour (WT). Six years on, we review 100 reports of intragenic WT1 mutations and examine the accompanying clinical phenotypes. While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations, >90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations. WT1 mutations have also been reported in juvenile granulosa cell tumour, non-asbestos related mesothelioma, desmoplastic small round cell tumour and, most recently, acute myeloid leukemia.

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