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Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome

✍ Scribed by Dr. Manfred Gessler; Anja König; Jay Moore; Steven Qualman; Karen Arden; Webster Cavenee; Gail Bruns

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
563 KB
Volume
7
Category
Article
ISSN
1045-2257

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✦ Synopsis

Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate I I p I 3 Wilms' tumor gene, WTI. has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome I I allele encompassing the WTI gene. Analysis of the remaining WTI allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-binding zinc finger domain that is essential for the function of the WTI polypeptide as a transcriptional regulator. Genes Chrorn Cancer 7:131-136 (1993). 0 1993 Wiley-Liss, Inc.

MATERIALS A N D METHODS

Patient

T h e patient, a boy, was born April 19, 1979, to healthy and normal parents. He had bilateral aniridia, hypospadias, and cryptorchidism, suggesting the presence of the WAGR syndrome. He was therefore kept under observation for the development of Wilms' tumor. At the age of almost 7 yrs he presented with gross hematuria, low back pain, and a palpable mass in the right upper abdomen. T h e tumor was removed by right radical nephrectomy and diagnosed as a Wilms' tumor. Follow-up at age 12 showed no evidence of recurrent tumor in the patient.

Cytogenetic Analysis

Lymphocytes from a peripheral blood sample were stimulated with phytohemagglutinin and arrested in early cell division with ethidium bromide followed by Colcemid treatment (Ikeuchi, 1984).

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