title: c-kit Point mutation in patients with myeloproliferative disorders.
abstract: Myeloproliferative disorders (MPD) constitute a group of hematopoietic neoplasms at the myeloid stem cell level. Myeloid stem cells and/or progenitor cells from MPD have been considered sensitive to hematopoietic growth factors, including erythropoietin, thrombopoietin and stem cell factor (SCF). SCF is a ligand for c-kit receptor with tyrosine kinase. We analysed the gene alteration of the c-kit extracellular domain in MPD patients by PCR-SSCP and subsequent nucleotide sequencing. The point mutation in the N-terminal part of the domain, codon 52 (Asp-->Asn), was found in two patients with primary myelofibrosis and one with chronic myelogenous leukemia. We review the literature regarding the role of SCF/c-kit system in the oncogenesis of leukemia and MPD, and then discuss the significance of our finding in the context of growth advantage of the mutated clones over the normal clones.
authors.affiliation: Department of Hematology and Oncology, Hiroshima University, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Kimura
authors.forename: Y
authors.initials: Y
authors.lastname: Nakata
authors.forename: O
authors.initials: O
authors.lastname: Katoh
authors.forename: H
authors.initials: H
authors.lastname: Hyodo
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D007938:Leukemia / Q000235:genetics*; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics* / Q000378:metabolism; D019089:Stem Cell Factor / Q000502:physiology
chemical_list: D019089:Stem Cell Factor; D019009:Proto-Oncogene Proteins c-kit