急性髓系白血病（AML）是一种复杂的血液恶性肿瘤，其特征是多种基因改变，每种改变都有不同的临床意义。 3 号染色体倒位 (inv(3)) 是一种罕见的遗传异常，约占 1.4-1.6% 的 AML 病例，严重影响预后。本综述探讨了 inv(3) AML 的病理生理学，重点关注 GATA2::EVI1 或 GATA2::MECOM 等融合基因。这些基因重排破坏了关键的细胞过程并导致白血病的发展。讨论了当前的治疗方式，包括强化化疗（IC）、低甲基化药物（HMA）联合维奈托克以及同种异体干细胞移植，强调了所取得的成果及其局限性。该综述还讨论了 inv(3) AML 的亚组，描述了其他突变及其对治疗反应的影响。与 inv(3) AML 相关的不良预后强调了迫切需要为这种 AML 亚型开发更有效的疗法。这一全面的概述旨在有助于更深入地了解 inv(3) AML 并指导未来的研究和治疗策略。

Acute myeloid leukemia (AML) is a complex hematological malignancy characterized by diverse genetic alterations, each with distinct clinical implications. Chromosome 3 inversion (inv(3)) is a rare genetic anomaly found in approximately 1.4-1.6% of AML cases, which profoundly affects prognosis. This review explores the pathophysiology of inv(3) AML, focusing on fusion genes like GATA2::EVI1 or GATA2::MECOM. These genetic rearrangements disrupt critical cellular processes and lead to leukemia development. Current treatment modalities, including intensive chemotherapy (IC), hypomethylating agents (HMAs) combined with venetoclax, and allogeneic stem cell transplantation are discussed, highlighting outcomes achieved and their limitations. The review also addresses subgroups of inv(3) AML, describing additional mutations and their impact on treatment response. The poor prognosis associated with inv(3) AML underscores the urgent need to develop more potent therapies for this AML subtype. This comprehensive overview aims to contribute to a deeper understanding of inv(3) AML and guide future research and treatment strategies.