联合常规细胞遗传学技术、多重巢式聚合酶链反应技术检测120例急性白血病患者遗传学异常

Detection of Genetics Aberrations in 120 Patients with Acute Leukemia Using Conventional Cytogenetic and Multiplex Reverse Transcription-Polymerase Chain Reaction

探讨如何提高急性白血病患者染色体/特异融合基因异常的检出率与准确率。联合常规细胞遗传学技术、多重巢式聚合酶链反应技术对120例急性白血病患者进行检测。结果表明:应用常规细胞遗传学检测出82例核型异常,占68.3%,而应用多重巢式聚合酶链反应技术检测出54例融合基因异常,占45%。联合这两种技术,120例急性白血病患者的遗传学异常检出率为:75%(90/120),其中有65例明确了具体染色体改变或特异性融合基因异常。30例患者经常规细胞遗传学检测出具有t(8;21)(q22;q22)或t(15;17)(q22;q12),多重巢式聚合酶链反应技术检测出39例患者具有AML1/ETO、PML/RARA或CBFB/MYH11融合基因异常。当存在染色体数目异常,或者不存在19种融合基因之一时多重巢式聚合酶链反应结果为阴性。提示常规细胞遗传学技术联合多重巢式聚合酶链反应技术可以有效地提高急性白血病患者染色体异常/特异性融合基因的检出率。

The study was aimed to explore the usefulness of conventional cytogenetic and multiplex Reverse Transcription--Polymerase Chain Reaction（ Multiplex RT--PCR） in detection of genetics aberrations in 120 acute leukemia （AL） patients. The results showed that conventional cytogenetic revealed chromosomal abnormalities in 82 patients （68.3 %） while multiplex RT--PCR showed some aberrations in 54 patients （45 %）. 90 patients （75%） were revealed genetic abnormalties by conventional cytogenetic and multiplex RT-PCR. 65 patients were defined chromosomal aberration and fusion genes. 30 patients with t（ 15 ; 17 ） or t（8 ; 21 ） detected by R--banding. Multiplex RT-- PCR revealed three types fusion genes such as AML1/ETO,PML/RARA ,CBFB/MYHll in 39 patients. However, multiplex RT--PCR did not detect numerical abnormalities and translocations other than the 19 translocations included in the assay as expected. In conclusion,conventional cytogenetic in combination with multiplex RT--PCR can improve the discovery rate of chromosome aberrations or fusion genes in the acute leukemia patients.