title: Successful treatment of KIT D816V-positive, imatinib-resistant systemic mastocytosis with interferon-alpha.
abstract: We describe a case of systemic mastocytosis associated with myelodysplastic syndrome. The bone marrow showed multifocal clusters of mast cells and myeloid dysplasia. Sequencing of the KIT DNA revealed a point mutation at codon 816 including a substitution of valine for aspartic acid (D816V). The patient's tumor did not respond to imatinib; however, interferon-alpha reduced the bone marrow mast cells and serum total tryptase. The patient remains alive at one year after the diagnosis without disease progression.
authors.affiliation: Division of Hematology, Department of Internal Medicine, National Hospital Organization Minami-Okayama Medical Center, Okayama. yoshidac@s-okayama.hosp.go.jp
authors.forename: Chikamasa
authors.initials: C
authors.lastname: Yoshida
authors.forename: Makoto
authors.initials: M
authors.lastname: Takeuchi
authors.forename: Junjiro
authors.initials: J
authors.lastname: Tsuchiyama
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Sadahira
mesh_terms: D001549:Benzamides; D001853:Bone Marrow / Q000473:pathology; D004351:Drug Resistance; D005260:Female; D006801:Humans; D000068877:Imatinib Mesylate; D016898:Interferon-alpha / Q000627:therapeutic use*; D008407:Mast Cells / Q000473:pathology; D034721:Mastocytosis, Systemic / Q000150:complications / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000150:complications; D010879:Piperazines / Q000627:therapeutic use*; D017354:Point Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D011743:Pyrimidines / Q000627:therapeutic use*
chemical_list: D001549:Benzamides; D016898:Interferon-alpha; D010879:Piperazines; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D019009:Proto-Oncogene Proteins c-kit