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

• Published in: Leukemia research Vol. 26; no. 11; pp. 979 - 984
• Main Authors: Sotlar, K, Fridrich, C, Mall, A, Jaussi, R, Bueltmann, B, Valent, P, Horny, H-P
• Format: Journal Article
• Language: English
• Published: 01.11.2002
• ISSN: 0145-2126

The c-kit mutation Asp-816 arrow right 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.