AML1-ETO融合蛋白是染色体易位t(8;21)(q22;q22)的产物,见于15%的急性髓细胞性白血病(acute myelocytic leukemia,AML),在FAB(French-American-British,FAB)分型M2型白血病中的阳性率为40%-50%,其中M2b亚型中的阳性率为90%,少见于M0、M1和M4型白血病,极少见于骨髓增生异常综合征(myelodysplastic syndrome,MDS)。
AML1-ETO fusion protein is the product of(8;21) translocation in M2 type acute myelocytic leukemia(AML).As a transcription repressor,AML1-ETO can block the differentiation of hematopoietic cells by repressing the expression of some important hematopoiesis-related transcription factors.Recent results indicate that the fusion protein also induces the epigenetic silencing of some target genes,resulting in the delay of hematopoietic maturation.Moreover,AML1-ETO promotes the proliferation of hematopoietic stem cells through up-regulating the expression of Jagged1 and miR-24.Meanwhile,a panel of results in the pathogenesis of AML1-ETO show that the expression of AML1-ETO alone can not induce AML.The secondary events or hits like c-kit gene mutation and the AML1-ETO9a truncation play an important role in leukemogenesis of AML1-ETO-positive cells.