title: Mutations in the Wilms' tumor gene WT1 in leukemias.
abstract: The tissue-specific Wilms' tumor gene WT1 is expressed in a range of acute leukemias and hematopoietic cell lines. Using single-strand conformational polymorphism analysis, we have found mutations in the WT1 gene in 4 of 36 acute leukemias. WT1 mutations are found in 15% of cases of acute myeloid leukemia, in which they are associated with a poor response to chemotherapy. The mutations comprise small insertions in exons 1 and 7 and a nonsense mutation in exon 9. All are predicted to produce a truncated WT1 protein with absence or disruption of the zinc finger region. These are the first mutations in the WT1 gene to be described in sporadic leukemia.
authors.affiliation: Institute of Cancer Research, Sutton, Surrey, UK.
authors.forename: L
authors.initials: L
authors.lastname: King-Underwood
authors.forename: J
authors.initials: J
authors.lastname: Renshaw
authors.forename: K
authors.initials: K
authors.lastname: Pritchard-Jones
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002478:Cells, Cultured; D002648:Child; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000096:biosynthesis / Q000235:genetics; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D016162:Genes, Wilms Tumor; D006412:Hematopoietic Stem Cells / Q000378:metabolism; D006801:Humans; D007938:Leukemia / Q000145:classification / Q000235:genetics* / Q000401:mortality; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011379:Prognosis; D012334:RNA, Neoplasm / Q000235:genetics; D014157:Transcription Factors / Q000096:biosynthesis / Q000235:genetics; D025721:WT1 Proteins; D016335:Zinc Fingers / Q000235:genetics
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D012334:RNA, Neoplasm; D014157:Transcription Factors; D025721:WT1 Proteins