Zeidan Amer M, Wang Eunice
Department of Internal Medicine, Yale School of Medicine, Yale University, New Haven, CT, USA.
Department of Medicine, Roswell Park Comprehensive Cancer Center, Buffalo, NY, USA.
Blood Lymphat Cancer. 2025 Jul 2;15:69-75. doi: 10.2147/BLCTT.S548242. eCollection 2025.
Acute myeloid leukemia (AML) is a heterogeneous malignancy characterized by diverse genetic mutations, including and , which are present in approximately 15-20% of cases. Recent clinical practice guidelines, including the 2025 NCCN guidelines, emphasize the importance of comprehensive mutational profiling at diagnosis and at relapse to guide targeted treatment strategies for patients with refractory or relapsed (R/R) AML. IDH1-mutations, which occur in 5-7% of AML cases, result in the production of the oncometabolite 2-hydroxyglutarate (2-HG), disrupting cellular differentiation. IDH1-inhibitors, such as ivosidenib and olutasidenib, block this aberrant metabolic pathway, allowing for differentiation and apoptosis of leukemia cells. Given the rarity of these mutations, comprehensive molecular testing remains essential to optimize therapeutic decision-making.
急性髓系白血病（AML）是一种异质性恶性肿瘤，其特征是存在多种基因突变，包括[具体基因1]和[具体基因2]，约15%-20%的病例中存在这些突变。近期的临床实践指南，包括2025年美国国立综合癌症网络（NCCN）指南，强调了在诊断和复发时进行全面突变谱分析对于指导难治性或复发性（R/R）AML患者靶向治疗策略的重要性。异柠檬酸脱氢酶1（IDH1）突变发生在5%-7%的AML病例中，会导致致癌代谢物2-羟基戊二酸（2-HG）的产生，扰乱细胞分化。IDH1抑制剂，如艾伏尼布和奥图西尼布，可阻断这种异常代谢途径，使白血病细胞分化并凋亡。鉴于这些突变较为罕见，全面的分子检测对于优化治疗决策仍然至关重要。
