title: Flt-3 and c-kit mutation studies in a spectrum of chronic myeloid disorders including systemic mast cell disease.
abstract: We screened 115 patients with chronic myeloid disorders (CMD) for known flt-3 and c-kit mutations in both the juxtamembrane (JM) and the activation loop (AL) domains. None of the patients displayed flt-3 (JM or AL) or c-kit JM mutations. However, the c-kit AL (D816V) mutation was detected in 5 of 16 patients with systemic mast cell disease (SMCD) but in none of the remaining 99 patients with other CMD. In SMCD, the presence of D816V mutation was significantly associated with advanced age, an aggressive clinical course, increased bone marrow mast cell content, and chronic myelomonocytic leukemia.
authors.affiliation: Division of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
authors.forename: Animesh
authors.initials: A
authors.lastname: Pardanani
authors.forename: Terra L
authors.initials: TL
authors.lastname: Reeder
authors.forename: Teresa K
authors.initials: TK
authors.lastname: Kimlinger
authors.forename: Jin Y
authors.initials: JY
authors.lastname: Baek
authors.forename: Chin-Y
authors.initials: CY
authors.lastname: Li
authors.forename: Joseph H
authors.initials: JH
authors.lastname: Butterfield
authors.forename: Ayalew
authors.initials: A
authors.lastname: Tefferi
mesh_terms: D000328:Adult; D000368:Aged; D002908:Chronic Disease; D015331:Cohort Studies; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008415:Mastocytosis / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051941:fms-Like Tyrosine Kinase 3
chemical_list: D004273:DNA, Neoplasm; D011518:Proto-Oncogene Proteins; C497970:FLT3 protein, human; D019009:Proto-Oncogene Proteins c-kit; D020794:Receptor Protein-Tyrosine Kinases; D051941:fms-Like Tyrosine Kinase 3