Biology and Management of Acute Myeloid Leukemia With Mutated NPM1

Am J Hematol. 2025 Apr;100(4):652-665. doi: 10.1002/ajh.27600. Epub 2025 Feb 4.

Abstract

Mutations in nucleophosmin 1 (NPM1) are diseased-defining genetic alterations encountered in approximately one-third of cases of acute myeloid leukemia (AML). A mutation in NPM1 confers a more favorable prognosis; however, clinical outcomes of NPM1-mutated AML (NPM1 mut AML) are diverse due to the heterogeneity of disease biology, patient characteristics, and treatment received. Research over the last two decades has dramatically expanded our understanding of the biology of NPM1 mut AML and led to the development of new therapeutic approaches and strategies for monitoring measurable residual disease (MRD). Here, we review NPM1 mut AML with a practical focus on the current treatment landscape, the role of MRD in guiding management, and emerging therapies, including menin inhibitors.

Keywords: AML; AML‐molecular diagnosis & therapy; dysplasias; neoplasia‐myeloid leukemias.

Publication types

  • Review

MeSH terms

  • Disease Management
  • Humans
  • Leukemia, Myeloid, Acute* / drug therapy
  • Leukemia, Myeloid, Acute* / genetics
  • Leukemia, Myeloid, Acute* / therapy
  • Mutation*
  • Neoplasm, Residual / genetics
  • Nuclear Proteins* / genetics
  • Nucleophosmin
  • Proto-Oncogene Proteins / antagonists & inhibitors

Substances

  • Nucleophosmin
  • NPM1 protein, human
  • Nuclear Proteins
  • Proto-Oncogene Proteins