Mastocytosis: advances in diagnosis and treatment

Mastocytosis is characterized by pathologic mast cell accumulation and activation in tissues. Establishment of objective histopathologic and molecular criteria for diagnosis of mastocytosis has allowed sensitive detection of mast cells with aberrant features in patients presenting with suspected mast cell activation symptoms. Frequent detection of the D816V c-kit tyrosine kinase mutation in mastocytosis has led to evaluation of small-molecular-weight tyrosine kinase inhibitors as mast cell cytoreductive agents. In vitro experiments, however, showed that mast cells carrying the D816V c-kit mutation were resistant to the prototypical tyrosine kinase inhibitor imatinib. Efficacy of newer generation tyrosine inhibitors in mast cell disease is currently being evaluated.