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.
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.
D000368:Aged; D001224:Aspartic Acid / Q000235:genetics; D001854:Bone Marrow Cells / Q000473:pathology; D017931:DNA Primers / Q000737:chemistry; D004273:DNA, Neoplasm / Q000235:genetics; D004847:Epithelial Cells / Q000378:metabolism; D006801:Humans; D007124:Immunoenzyme Techniques; D007834:Lasers; D015477:Leukemia, Myelomonocytic, Chronic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008407:Mast Cells / Q000473:pathology; D034721:Mastocytosis, Systemic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D014633:Valine / Q000235:genetics
D017931:DNA Primers; D004273:DNA, Neoplasm; D001224:Aspartic Acid; D019009:Proto-Oncogene Proteins c-kit; D014633:Valine