t(8;21)白血病的发病机制及二代测序技术在白血病中的应用进展

Pathogenesis of t(8;21) acute myeloid leukemia and the progress of next generation sequencing technique in leukemia

急性髓系白血病(AML)在急性白血病中最为常见,是一类具有高度异质性的侵袭性血液系统疾病,其中t(8;21)(q22;q22)染色体易位是AML中最常见的染色体易位,可产生AML1-ETO融合基因并编码AML1-ETO融合蛋白。本文对急性髓系白血病发生的"二次打击"学说,t(8;21)AML的发病机制,涉及t(8;21)AML发生发展的各种因素,AML1-ETO融合蛋白组成成分的功能等进行综述,为t(8;21)AML的临床治疗和预后提供重要的基本信息。同时本文还总结了二代测序技术在白血病领域的研究进展,以期为t(8;21)AML的精准治疗提供新方法。

Acute myeloid leukemia （AML）, the most common disease in acute leukemia, is a highly heterogeneous invasive hematological disease. The t（8;21）（q22;q22） translocation is the most common chromosomal translocation in AML, generating AML1-ETO fusion gene and encoding AML1-ETO fusion protein. This article summarizes the ＂two-hit＂ hypothesis in AML occurrence, the pathogenesis of t（8;21）AML, all features involved in t（8;21）AML, and the function of the components in AML1- ETO fusion protein, providing important basic information for the treatment and prognosis of t（8;21）AML. Meanwhile, this article also summarizes the progress of next generation sequencing technique in leukemia, providing a new technique for the accurate therapy of （8;21 ）AML.