Document Detail


Twenty-four new cases of WT1 germline mutations and review of the literature: genotype/phenotype correlations for Wilms tumor development.
MedLine Citation:
PMID:  15150775     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report here 24 new Wilms tumor (WT) patients with germline WT1 alterations and a synopsis of our own previously described and literature cases in whom age of tumor-onset, gender, and laterality were known. This combined database contains 282 patients, 117 patients with and 165 without WT1 germline alterations. Using this information we have determined the median age of tumor-onset for patients with (12.5 months) and without WT1 gene alterations (36 months). The earliest onset was in patients with truncation (12 mo, 66 patients), followed by missense mutations (18 mo, 30 patients) and deletions (22 mo, 21 patients). Patients with the two most frequent nonsense mutations R362X and R390X and the Denys-Drash syndrome (DDS) hot spot mutation R394W/Q/L had a very early onset (9, 12, and 18 mo, respectively). The highest number of bilateral tumors was observed in the group of truncation mutations, with a higher percentage of bilateral tumors when truncations occurred in the 5' half of the WT1 gene. In addition to genital tract anomalies (GU), early onset nephrotic syndrome with diffuse mesangial sclerosis and stromal-predominant histology, tumor bilaterality, and early age of onset can now be added to the list of risk factors for carrying a germline WT1 mutation.
Authors:
Brigitte Royer-Pokora; Manfred Beier; Markus Henzler; Rita Alam; Valérie Schumacher; Angela Weirich; Vicki Huff
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  127A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 Jun 
Date Detail:
Created Date:  2004-05-19     Completed Date:  2005-02-22     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  249-57     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Affiliation:
Institute of Human Genetics and Anthropology, University Hospital, Heinrich Heine University, Duesseldorf, Germany. royer@uni-duesseldorf.de
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Aged, 80 and over
Child
Female
Genes, Wilms Tumor*
Genotype
Germ-Line Mutation*
Humans
Male
Middle Aged
Phenotype
Wilms Tumor / genetics*
Grant Support
ID/Acronym/Agency:
CA1672/CA/NCI NIH HHS; CA34936/CA/NCI NIH HHS; CA78257/CA/NCI NIH HHS

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