title: Mutations of the WT1 gene in childhood nonlymphoid hematological malignancies.
abstract: The Wilms' tumor gene WT1, whose loss of function accounts for the genesis of about 10% of Wilms' tumors, is expressed in hematopoietic stem cells and leukemia. By analogy with the relationship between the kidney stem cell and Wilms' tumor, it is probable that WT1 is mutated in leukemia. WT1 mutations have been found in only eight cases of primary leukemia, mainly in acute myeloid leukemia (AML) and rarely in acute lymphoblastic leukemia. However, two other studies have demonstrated the absence of WT1 mutations in leukemia. To determine if WT1 mutations are associated with leukemias, we screened childhood nonlymphoid malignancies for WT1 mutation. WT1 mutations were found in 6 of 46 (13%) AMLs, but not in other nonlymphoid hematological malignancies. In addition, the presence of WT1 mutations in AML caused by chromosomal translocations suggests that mutations of WT1 may lead to the progression of leukemia.
authors.affiliation: Department of Developmental Biology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan. miyag@ue.ipc.hiroshima-u.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Miyagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Hayashi
authors.forename: T
authors.initials: T
authors.lastname: Fukuda
authors.forename: K
authors.initials: K
authors.lastname: Mitani
authors.forename: H
authors.initials: H
authors.lastname: Hirai
authors.forename: K
authors.initials: K
authors.lastname: Kamiya
mesh_terms: D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D016162:Genes, Wilms Tumor / Q000235:genetics; D019337:Hematologic Neoplasms / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis / Q000235:genetics; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics; D011379:Prognosis; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics; D025721:WT1 Proteins
chemical_list: D004268:DNA-Binding Proteins; D014157:Transcription Factors; D025721:WT1 Proteins