文章：

急性早幼粒细胞白血病样急性髓系白血病：遗传学视角与临床意义

Acute Promyelocytic Leukemia-like AML: Genetic Perspective and Clinical Implications

原文发布日期：16 December 2024

DOI: 10.3390/cancers16244192

类型: Article

开放获取: 是

英文摘要：

Acute promyelocytic leukemia (APL) is a rare type of AML, characterized by the t(15;17) translocation and accounting for 8–15% of cases. The introduction of target therapies, such as all-trans retinoic acid (ATRA) and arsenic trioxide (ATO), radically changed the management of APL, making it the most curable AML subtype. However, a small percentage (estimated to be 2%) of AML presenting with APL-like morphology and/or immunophenotype lacks t(15;17). This rare APL-like AML group, whose first case was described in the early 1990s, now includes over 40 entities. These diseases present great heterogeneity in terms of genetic lesions, clinical presentation, sensitivity to targeted agents and chemotherapy, and prognosis. Furthermore, the diagnosis is very challenging. Thus, in this paper, we aim to comprehensively review the literature reports and studies addressing APL-like entities, investigate the biological mechanisms of leukemogenesis, evaluate the clinical characteristics, and discuss future lines of research and possible clinical approaches.

摘要翻译： 

急性早幼粒细胞白血病（APL）是一种罕见的急性髓系白血病亚型，其特征为t(15;17)染色体易位，约占全部病例的8%-15%。全反式维甲酸（ATRA）与三氧化二砷（ATO）等靶向疗法的应用彻底改变了APL的治疗模式，使其成为治愈率最高的急性髓系白血病亚型。然而，约2%具有APL形态学和/或免疫表型特征的急性髓系白血病患者并不存在t(15;17)易位。这类罕见的类APL急性髓系白血病自1990年代初首次报道以来，目前已涵盖超过40种疾病实体。这些疾病在遗传学改变、临床表现、对靶向药物及化疗的敏感性以及预后方面存在高度异质性，且诊断极具挑战性。因此，本文旨在系统综述类APL疾病的相关文献报道与研究，深入探讨其白血病发生的生物学机制，评估临床特征，并对未来研究方向及潜在临床治疗策略进行展望。

原文链接：

Acute Promyelocytic Leukemia-like AML: Genetic Perspective and Clinical Implications