Detection of c-kit mutation Asp 816 to Val in microdissected bone marrow infiltrates in a case of systemic mastocytosis associated with chronic myelomonocytic leukaemia

摘要

Background/Aims-The occurrence of myeloid leukaemia in patients with sys- temic mastocytosis is a well recognised phenomenon. However, the pathophysi- ological basis of such a coevolution has not been clarified. Recent data have shown that the c-kit mutation Asp 816 to Val is detectable in neoplastic mast cells in most patients with systemic mastocytosis, in- cluding those who have associated haema- tological disorders. The aim of this study was to study clonal disease evolution by analysing bone marrow cells from a patient with systemic mastocytosis and associated chronic myelomonocytic leu- kaemia (CMML) for the presence of this mutation.