摘要
核仁磷酸蛋白1(nucleophosmin 1,NPM1)突变是成人急性髓系白血病(adult acute myeloid leukemia,AML)的核心分子标志,是监测白血病亚临床水平即微小残留病(minimal residual disease,MRD)的理想靶点,对疾病分型、治疗选择及预后评估具有重要临床价值。本文整合近期研究进展,讨论靶向治疗、化疗联合CD33单抗及异基因造血干细胞移植(allogeneic hematopoietic stem cell transplantation,allo-HSCT)的临床适用范围,强调MRD动态监测在优化长期管理中的价值。特别关注NPM1突变AML的耐药机制,如B细胞淋巴瘤2(B-cell lymphoma 2,BCL-2)/髓系细胞白血病1(myeloid cell leukemia 1,MCL-1)失衡、代谢适应及中国人群(突变频率、共突变谱、治疗反应)的特点。本文旨在为临床医生提供NPM1突变的分层诊疗框架,同时为未来研究方向提供理论依据。
Nucleophosmin 1(NPM1)mutation is a core molecular marker in adult acute myeloid leukemia(AML)and an ideal target for assessing 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 transplantation(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 frequency,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.
作者
侯恩静(综述)
刘丽萍(校对)
Enjing Hou;Liping Liu(School of Clinical Medicine,Shandong Second Medical University,Weifang 261041,China;Weifang People's Hospital,Shandong Second Medical University,Weifang 261041,China)
出处
《中国肿瘤临床》
北大核心
2025年第14期743-747,共5页
Chinese Journal of Clinical Oncology
关键词
急性髓系白血病
NPM1突变
危险分层
靶向治疗
微小残留病
acute myeloid leukemia(AML)
NPM1 mutation
risk stratification
molecular targeted therapy
minimal residual disease(MRD)
