Detection of c-kit point mutation Asp-816 --> Val in microdissected pooled single mast cells and leukemic cells in a patient with systemic mastocytosis and concomitant chronic myelomonocytic leukemia

Leuk Res. 2002 Nov;26(11):979-84. doi: 10.1016/s0145-2126(02)00041-3.

Abstract

The c-kit mutation Asp-816-->Val is detectable not only in neoplastic mast cells (MCs) in patients with systemic mastocytosis (SM) but also in most associated hematologic non-MC lineage disease (AHNMD). In order to prove a monoclonal disease evolution we investigated DNA of pooled microdissected single cells for the presence of the mutation in a patient with SM and concomitant chronic myelomonocytic leukemia (CMML). LightCycler melting curve analysis and direct sequencing of nested polymerase chain reaction (PCR) products revealed the c-kit mutation in tryptase-positive MC and in leukemic CD15-positive cells in bone marrow infiltrates, but not in colonic epithelial cells, thus, suggesting a monoclonal evolution of SM and concurrent CMML on the basis of a somatic mutation in a common hematologic progenitor.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Aspartic Acid / genetics
  • Bone Marrow Cells / pathology
  • DNA Primers / chemistry
  • DNA, Neoplasm / genetics
  • Epithelial Cells / metabolism
  • Humans
  • Immunoenzyme Techniques
  • Lasers
  • Leukemia, Myelomonocytic, Chronic / complications
  • Leukemia, Myelomonocytic, Chronic / genetics*
  • Leukemia, Myelomonocytic, Chronic / pathology
  • Male
  • Mast Cells / pathology
  • Mastocytosis, Systemic / complications
  • Mastocytosis, Systemic / genetics*
  • Mastocytosis, Systemic / pathology
  • Point Mutation*
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins c-kit / genetics*
  • Valine / genetics

Substances

  • DNA Primers
  • DNA, Neoplasm
  • Aspartic Acid
  • Proto-Oncogene Proteins c-kit
  • Valine