c-kit point mutation of extracellular domain in patients with myeloproliferative disorders

Authors

  • Yoshio Nakata,

    1. Departments of Environment and Mutation, and Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
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  • Akiro Kimura,

    Corresponding author
    1. Departments of Environment and Mutation, and Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
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  • Osamd Katoh,

    1. Departments of Environment and Mutation, and Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
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  • Kuniko Kawaishi,

    1. Departments of Environment and Mutation, and Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
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  • Hideo Hyodo,

    1. Departments of Environment and Mutation, and Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
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  • Kazuhiro Abe,

    1. Departments of Environment and Mutation, and Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
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  • Atsushi Kuramoto,

    1. Departments of Environment and Mutation, and Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
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  • Yukio Satow

    1. Departments of Environment and Mutation, and Hematology and Oncology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan
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Dr Akiro Kimura, Department of Environment and Mutation, Research Institute for Radiation Biology and Medicine, Hiroshima University, Kasumi 1-2-3, Minami-ku, Hiroshima 734, Japan.

Abstract

Summary. c-kit is a tyrosine kinase receptor whose ligand is stem cell factor (SCF). Gene alteration of the c-kit extracellular domain was analysed by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) in 25 patients with myeloproliferative disorders (MPD). In the N-terminal part of the domain, mobility shifts indicating sequence alteration were detected in three of the patients, two primary myelofibrosis (PMF) and one chronic myelogenous leukaemia (CML). The subsequent sequencing revealed the same point mutations at codon 52 causing amino acid substitution (Asp → Asn). To our knowledge this is the first report with a c-kit point mutation found in human fresh tumour cells.

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