title: Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis.
abstract: Mutations of the c-kit gene have been reported in myeloproliferative disorders. We describe here a case of Ph+ (b2a2) chronic myelogenous leukemia that, during the course of disease, showed an unusual bone marrow mast-cell infiltration. A mutational screening for the c-kit gene, performed on DNA routinely cryopreserved during the follow-up, evidenced the D816Y-activating mutation as an additional genetic abnormality. Treatment with imatinib mesylate resulted in a substantial decrease of the BCR-ABL/ABL ratio and in the absence of c-kit mutation. It is likely that the superimposed c-kit mutation, in this case, may account for the transient bone marrow mastocytosis.
authors.affiliation: Division of Hematology, Niguarda Hospital, Milan, Italy. ematologia@ospedaleniguarda.it
authors.forename: Roberto
authors.initials: R
authors.lastname: Cairoli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Grillo
authors.forename: Alessandro
authors.initials: A
authors.lastname: Beghini
authors.forename: Giorgia
authors.initials: G
authors.lastname: Cornacchini
authors.forename: Lidia
authors.initials: L
authors.lastname: Larizza
authors.forename: Enrica
authors.initials: E
authors.lastname: Morra
mesh_terms: D000328:Adult; D001854:Bone Marrow Cells / Q000473:pathology*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008415:Mastocytosis / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit