Mutated NPM1 in patients with acute myeloid leukemia in remission and relapse

Preetesh Jain, Hagop Kantarjian, Keyur Patel, Stefan Faderl, Guillermo Garcia-Manero, Ohad Benjamini, Gautam Borthakur, Naveen Pemmaraju, Tapan Kadia, Naval Daver, Aziz Nazha, Raja Luthra, Sherry Pierce, Jorge Cortes, Farhad Ravandi

Research output: Contribution to journalArticlepeer-review

28 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1337-1344
Number of pages8
JournalLeukemia and Lymphoma
Issue number6
StatePublished - Jun 2014
Externally publishedYes


  • AML
  • MRD
  • Minimal residual disease
  • NPM1 mutations

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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