Clinical significance and therapeutic advances of NPM1 mutations in acute myeloid leukemia
10.12354/j.issn.1000-8179.2025.20250490
- VernacularTitle:NPM1突变在急性髓系白血病中的临床意义及治疗进展
- Author:
Hou ENJING
1
;
Liu LIPING
Author Information
1. 山东第二医科大学临床医学院(山东省 潍坊市 261041)
- Publication Type:Journal Article
- Keywords:
acute myeloid leukemia(AML);
NPM1 mutation;
risk stratification;
molecular targeted therapy;
minimal residual disease(MRD)
- From:
Chinese Journal of Clinical Oncology
2025;52(14):743-747
- CountryChina
- Language:Chinese
-
Abstract:
Nucleophosmin 1(NPM1)mutation is a core molecular marker in adult acute myeloid leukemia(AML)and an ideal target for as-sessing subclinical disease burden(i.e.,minimal residual disease[MRD]).This mutation has a significant clinical value in disease classification,treatment selection,and prognosis evaluation.In this review,we integrate the latest research advances and discuss the clinical applicability of targeted therapies,chemotherapy combined with anti-CD33 monoclonal antibodies,and allogeneic hematopoietic stem cell transplanta-tion(allo-hematopoietic stem-cell transplantation).This review highlights the importance of dynamic MRD monitoring to optimize long-term disease management.We particularly focus on the mechanisms of drug resistance in NPM1-mutated AML(e.g.,B-cell lymphoma 2[BCL-2]/myeloid cell leukemia 1[MCL-1]imbalance and metabolic adaptations)and characteristics of the Chinese population(mutation fre-quency,co-mutation profiles,and treatment response).This review aims to provide clinicians with a stratified diagnosis and treatment framework for NPM1-mutated AML as well as theoretical foundations for future research directions.
