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Acute myeloid leukemia with mutated NPM1

Last edited: 4/10/2026

Overview

Acute myeloid leukemia (AML) is a heterogeneous group of hematologic malignancies characterized by the accumulation of myeloid blasts in the bone marrow and peripheral blood. Mutations in the NPM1 gene are among the most frequent genetic alterations in AML, particularly in adult patients with a normal karyotype.

Diagnosis

  • Diagnosis of AML is based on the presence of ≥20 percent myeloid blasts in the bone marrow or peripheral blood 1.
    • Genetic testing, including NPM1* mutation analysis, is crucial for prognostication and treatment stratification in AML 1.

    Management

    Treatment for AML is stratified based on risk factors, including genetic mutations such as NPM1* 1. Patients with NPM1-mutated AML, especially those with a co-occurring FLT3-ITD* wild-type status, generally have a favorable prognosis and may benefit from intensive chemotherapy 1. Allogeneic hematopoietic stem cell transplantation (HSCT) is considered for high-risk AML patients, but its role in NPM1*-mutated AML is debated and depends on other prognostic factors 1. Synthetic lethality (SL) is an emerging therapeutic strategy in oncology, with potential applications in AML, although specific SL targets for NPM1*-mutated AML are still under investigation 1.

    Key Recommendations

  • NPM1 mutation status should be assessed at diagnosis for AML patients to guide risk stratification and treatment decisions 1. (Evidence: Moderate)
  • Intensive chemotherapy is typically the first-line treatment for NPM1-mutated AML, particularly in the absence of adverse genetic factors 1. (Evidence: Moderate)
  • The role of allogeneic HSCT in NPM1-mutated AML requires careful consideration of individual patient factors and other genetic mutations 1. (Evidence: Moderate)

    • References

    1 Schäffer AA, Chung Y, Kammula AV, Ruppin E, Lee JS. A systematic analysis of the landscape of synthetic lethality-driven precision oncology. Med (New York, N.Y.) 2024. link

    Original source

    1. [1]
      A systematic analysis of the landscape of synthetic lethality-driven precision oncology. — Schäffer AA, Chung Y, Kammula AV, Ruppin E, Lee JS Med (New York, N.Y.) (2024)
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