title: Mutated NPM1 in patients with acute myeloid leukemia in remission and relapse.
abstract: Patients with newly diagnosed AML (n = 360) including 137 (38%) with normal karyotype (NK) were evaluated. Overall, 60 (16.6%) patients, including 46 of the 137 (33.5%) NK patients, had NPM1 mutation at baseline. Thirty-nine patients (30 NK) had available NPM1 status at the time of complete remission (CR) and all (100%) were negative for mutated NPM1. Among the patients with mutated NPM1 at baseline, 10/39 overall (25%) and 7/30 NK (23%) patients relapsed. NPM1 status was available for eight patients (six with NK) at the time of relapse. Among them, 7/8 overall (87%) and 5/6 NK (83%) patients had mutated NPM1, while 1/8 overall (12%) and 1/6 NK (16%) patients remained NPM1 wild type. Among the 300 patients (including 91 with NK) with wild type NPM1 at diagnosis, none acquired a mutated NPM1 clone, either at CR or at relapse. We conclude that mutated NPM1 is a stable and reliable prognostic marker in AML and can be used to assess MRD.
authors.affiliation: Department of Leukemia.
authors.forename: Preetesh
authors.initials: P
authors.lastname: Jain
authors.forename: Hagop
authors.initials: H
authors.lastname: Kantarjian
authors.forename: Keyur
authors.initials: K
authors.lastname: Patel
authors.forename: Stefan
authors.initials: S
authors.lastname: Faderl
authors.forename: Guillermo
authors.initials: G
authors.lastname: Garcia-Manero
authors.forename: Ohad
authors.initials: O
authors.lastname: Benjamini
authors.forename: Gautam
authors.initials: G
authors.lastname: Borthakur
authors.forename: Naveen
authors.initials: N
authors.lastname: Pemmaraju
authors.forename: Tapan
authors.initials: T
authors.lastname: Kadia
authors.forename: Naval
authors.initials: N
authors.lastname: Daver
authors.forename: Aziz
authors.initials: A
authors.lastname: Nazha
authors.forename: Raja
authors.initials: R
authors.lastname: Luthra
authors.forename: Sherry
authors.initials: S
authors.lastname: Pierce
authors.forename: Jorge
authors.initials: J
authors.lastname: Cortes
authors.forename: Farhad
authors.initials: F
authors.lastname: Ravandi
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D059785:Karyotype; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009364:Neoplasm Recurrence, Local; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D011379:Prognosis; D012074:Remission Induction; D012189:Retrospective Studies; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin
keywords: AML; MRD; NPM1 mutations; minimal residual disease