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

Br J Haematol. 1995 Nov;91(3):661-3. doi: 10.1111/j.1365-2141.1995.tb05364.x.


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.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Female
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Myeloproliferative Disorders / genetics*
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Primary Myelofibrosis / genetics
  • Proto-Oncogene Proteins c-kit / genetics*
  • Sequence Analysis


  • Proto-Oncogene Proteins c-kit