AML1／ETO9a异构体在M2型急性髓系白血病中表达的研究

Expression of AML1/ETO9a isoform in acute myeloid leukemia-M2 subtype

目的研究AML1／ETO9a异构体在急性髓系白血病M2型（AML—M2）中的表达。方法应用R带染色体核型分析，结合RT—PCR技术检测各型白血病、骨髓增生异常综合征（MDS）、白血病细胞系及正常人骨髓中AML1／ETO融合基因和AML1／ETO9a异构体的表达。结果在30例初诊AML-M2中有15例AML1／ETO9a异构体表达阳性，同时在20例AML—M2完全缓解患者、18例非M2型急性白血病患者、5例慢性粒细胞白血病（CML）患者、3例MDS患者、3个白血病细胞系（NB4、KG-1、K562）及5份正常骨髓标本中均未检测到AML1／ETO9a异构体。15例AML1／ETO9a异构体阳性患者中有13例同时具有AML1／ETO融合基因及t（8；21），2例仅表达AML1／ETO9a异构体，AML1／ETO融合基因及t（8；21）均未检测到。结论AML1／ETO9a异构体可能与AML—M2相关，并可能与AMLI／ETO融合基因共同参与白血病的发生。

Objective To investigate the expression of AML1/ETO9a isoform in the acute myeloid leukemia （AML）- M2 patients. Methods Expressions of AML1/ETO fusion gene and AML1/ETO9a isoform were detected by using reverse transcriptase-polymerase chain reaction （RT-PCR） in leukemia patients, MDS patients, leukemia cell lines and healthy subjects. Karyotype was studied by R-banding technique. Result In 30 newly diagnosed AML-M2 patients 15 were found to express AML1/ETO9a isoform, while the rest including 20 AML- M2CR, 18 other subtypes of AML, 5 chronic myelogenous leukemia（CML） , 3 myelodysplastic syndromes （MDS）, 3 leukemia cell lines （NB4, KG-1, K562） and 5 healthy subjects were AML1/ ETO9a negative. Among the 15 AML/ETO9a isoform expressing cases, 13 were demonstrated t（8 ;21 ） translocation and AML1/ETO expression. Conclusion Isoform AML1/ETOga was correlated to AML/M2 , and it may promote the development of leukemia in combination with the AML1/ETO fusion gene.