title: Identification of c-Kit gene mutations in patients with polycythemia vera.
abstract: Imatinib mesylate has recently been reported to have clinical activity in the treatment of polycythemia vera (PV), suggesting the involvement of one of the kinases targeted by this inhibitor, including c-Kit and PDGFR. Activating c-Kit mutations have been identified in patients with mastocytosis and other myeloid disorders such as acute myeloid leukemia. Thus, we wanted to analyze the presence of mutations of c-Kit in polycythemia vera patients. We found that 7 out of 20 patients carried missense mutations in the c-Kit gene whereas no sequence variation was detected in 15 healthy controls.
authors.forename: Ana
authors.initials: A
authors.lastname: Fontalba
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: Real
authors.forename: Jose L
authors.initials: JL
authors.lastname: Fernandez-Luna
authors.forename: Xabier
authors.initials: X
authors.lastname: Agirre
authors.forename: Felipe
authors.initials: F
authors.lastname: Prosper
authors.forename: Carlos
authors.initials: C
authors.lastname: Richard
mesh_terms: D019943:Amino Acid Substitution; D014644:Genetic Variation; D006801:Humans; D020125:Mutation, Missense; D011087:Polycythemia Vera / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D017479:Receptors, Platelet-Derived Growth Factor / Q000235:genetics; D012016:Reference Values
chemical_list: D019009:Proto-Oncogene Proteins c-kit; D017479:Receptors, Platelet-Derived Growth Factor