title: Fms like tyrosine kinase (FLT3) and nucleophosmin 1 (NPM1) mutations in de novo normal karyotype acute myeloid leukemia (AML).
abstract: Mutations in FLT3 and NPM1 are important prognostic factors in AML, influencing outcome in normal karyotype cases. We here analysed incidences of FLT3/ITD, D 835 and NPM1 mutations in patients with de novo normal karyotype AML using PCR and gene sequencing, along with laboratory parameters and treatment outcomes. There were 128 patients with a median age of 45 years (range, 19-65). FLT3/ITD mutations were detected in 26 (20.3%), FLT3/D835 in 8 (6.2%) and NPM1 in 22 (17.1%). The incidence of FLT3/ITD was higher in those with elevated lactate dehydrogenase (LDH) and peripheral blasts (p=< 0.002, < 0.001) while NPM1 mutations or both NPM1 and FLT3/ITD was more common in elevated total leukocyte counts (TLC), LDH and peripheral blasts (p=<0.0001). Complete response and disease free survival were lower in those with FLT3/ITD mutations (p=0.04, 0.03). The incidence of FLT3 and NPM1 mutations was found to be low in Indian patients with normal karyotype AML.
authors.affiliation: Department of Genetics, Osmania University, India.
authors.forename: Nageswara Rao
authors.initials: NR
authors.lastname: Dunna
authors.forename: Senthil
authors.initials: S
authors.lastname: Rajappa
authors.forename: Raghunadharao
authors.initials: R
authors.lastname: Digumarti
authors.forename: Sugunakar
authors.initials: S
authors.lastname: Vure
authors.forename: Sailaja
authors.initials: S
authors.lastname: Kagita
authors.forename: Surekha
authors.initials: S
authors.lastname: Damineni
authors.forename: V R
authors.initials: VR
authors.lastname: Rao
authors.forename: Satish Kumar
authors.initials: SK
authors.lastname: Yadav
authors.forename: Rajasekhara Reddy
authors.initials: RR
authors.lastname: Ravuri
authors.forename: Vishnupriya
authors.initials: V
authors.lastname: Satti
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D016133:Polymerase Chain Reaction; D011379:Prognosis; D011446:Prospective Studies; D012189:Retrospective Studies; D015996:Survival Rate; D016896:Treatment Outcome; D055815:Young Adult; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3