NPM1 Biology in Myeloid Neoplasia

Sanjay S. Patel, Michael J. Kluk, Olga K. Weinberg

Research output: Contribution to journalReview articlepeer-review

5 Scopus citations


Purpose of Review: Nucleophosmin (NPM1) mutations are encountered in myeloid neoplasia and are present in ~ 30% of de novo acute myeloid leukemia cases. This review summarizes features of mutant NPM1-related disease, with a particular emphasis on recent discoveries relevant to disease monitoring, prognostication, and therapeutic intervention. Recent Findings: Recent studies have shown that HOX/MEIS gene overexpression is central to the survival of NPM1-mutated cells. Two distinct classes of small molecule drugs, BH3 mimetics and menin-MLL interaction inhibitors, have demonstrated exquisite leukemic cell toxicity in preclinical AML models associated with HOX/MEIS overexpression, and the former of these has shown efficacy in older treatment-naïve NPM1-mutated AML patients. The results of ongoing clinical trials further investigating these compounds will be of particular importance and may alter the clinical management of patients with NPM1-mutated myeloid neoplasms. Summary: Significant scientific advancements over the last decade, including improved sequencing and disease monitoring techniques, have fostered a much deeper understanding of mutant NPM1 disease biology, prognostication, and opportunities for therapeutic intervention. These discoveries have led to the development of clinical assays that permit the detection and monitoring of mutant NPM1 and have paved the way for future investigation of targeted therapeutics using emerging cutting-edge techniques.

Original languageEnglish (US)
Pages (from-to)350-359
Number of pages10
JournalCurrent Hematologic Malignancy Reports
Issue number4
StatePublished - Aug 1 2020
Externally publishedYes


  • Acute myeloid leukemia
  • Minimal residual disease
  • Myelodysplastic syndrome
  • NPM1
  • Nucleophosmin

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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