title: Mastocytosis: advances in diagnosis and treatment.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Division of Allergy and Clinical Immunology, University of Michigan, 5520-B, MSRB-1, Box 0600, 1150 W. Medical Center Drive, Ann Arbor, MI 48109-0600, USA.
authors.forename: Susan I
authors.initials: SI
authors.lastname: Hungness
authors.forename: Cem
authors.initials: C
authors.lastname: Akin
mesh_terms: D019943:Amino Acid Substitution; D001549:Benzamides; D019008:Drug Resistance, Neoplasm / Q000187:drug effects / Q000235:genetics; D006801:Humans; D000068877:Imatinib Mesylate; D008407:Mast Cells / Q000201:enzymology / Q000473:pathology; D008415:Mastocytosis / Q000175:diagnosis* / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D020125:Mutation, Missense; D010879:Piperazines / Q000627:therapeutic use; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics / Q000378:metabolism; D011743:Pyrimidines / Q000627:therapeutic use; D014443:Tyrosine / Q000037:antagonists & inhibitors / Q000378:metabolism
chemical_list: D001549:Benzamides; D010879:Piperazines; D047428:Protein Kinase Inhibitors; D011743:Pyrimidines; D014443:Tyrosine; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit