NDLI: Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal

Content Provider	PubMed Central
Author	Schumacher, V. Schneider, S. Figge, A. Wildhardt, G. Harms, D. Schmidt, D. Weirich, A. Ludwig, R. Royer-pokora, B.
Copyright Year	1997
Abstract	The WT1 gene, located on chromosome 11p13, is mutated in a low number of Wilms tumors (WTs). Germ-line mutations in the WT1 gene are found in patients with bilateral WT and/or associated genital tract malformations (GU). We have identified 19 hemizygous WT1 gene mutations/deletions in 64 patient samples. The histology of the tumors with mutations was stromal–predominant in 13, triphasic in 3, blastemal–predominant in 1, and unknown in 2 cases. Thirteen of 21 patients with stromal–predominant tumors had WT1 mutations and 10 of these were present in the germ line. Of the patients with germ-line alterations, six had GU and a unilateral tumor, two had a bilateral tumor and normal GU tracts, and two had a unilateral tumor and normal GU. Three mutations were tumor-specific and were found in patients with unilateral tumors without GU. These data demonstrate a correlation of WT1 mutations with stromal–predominant histology, suggesting that a germ-line mutation in WT1 predisposes to the development of tumors with this histology. Twelve mutations are nonsense mutations resulting in truncations at different positions in the WT1 protein and only two are missense mutations. Of the stromal–predominant tumors, 67% showed loss of heterozygosity, and in one tumor a different somatic mutation in addition to the germ-line mutation was identified. These data show that in a large proportion of a histopathologically distinct subset of WTs the classical two-hit inactivation model, with loss of a functional WT1 protein, is the underlying cause of tumor development.
Starting Page	3972
File Format	PDF
ISSN	10916490
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	8
Volume Number	94
Language	English
Publisher	The National Academy of Sciences of the USA
Publisher Date	1997-04-15
Access Restriction	Open
Rights Holder	The National Academy of Sciences of the USA
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

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