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Novel WT1 mutation, 11p LOH, and t(7;12) (p22;q22) chromosomal translocation identified in a Wilms Tumor Case
Author(s) -
Löbbert Ralf W.,
Klemm Gabi,
Grüttner HansPeter,
Harms Dieter,
Winterpacht Andreas,
Zabel Bernhard U.
Publication year - 1998
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199804)21:4<347::aid-gcc9>3.0.co;2-z
Subject(s) - chromosomal translocation , genetics , wilms' tumor , mutation , biology , cancer research , gene
About 5–10% of sporadic Wilms' tumors (WT) are associated with mutations in the Wilms' tumor 1 gene ( WT1 ). More than 90% of patients with Denys‐Drash syndrome (DDS; characterized by renal nephropathy, gonadal anomaly, and predisposition to WT) show constitutional intragenic WT1 mutations. We describe a novel WT1 stop‐mutation in exon 2. This heterozygous germline mutation was detected in a one‐year‐old girl who was bilaterally affected with Wilms' tumor but without any other clinical manifestations of DDS. The C‐to‐A transversion is predicted to result in a polypeptide comprising only the first 165 amino acids of the WT1 protein. Loss of heterozygosity (LOH) studies comparing tumor DNA with lymphocyte DNA revealed LOH for the entire short arm of chromosome 11 in tumor tissue. In addition to the chromosome 11 lesions, the tumor showed a seemingly balanced chromosomal translocation t(7;12) (p22;q22) as the only visible cytogenetic aberration. Genes Chromosomes Cancer 21:347–350, 1998. © 1998 Wiley‐Liss, Inc.