正常核型急性髓系白血病患者融合基因的检测  

Detection of Fusion Genes in Acute Myeloid Leukemia Patients with Normal Karyotypes

作　　者：赵瑾[1,2] 周永安[1] 苏丽萍[1] 武坚锐[3] 王恺[1] 解菊芬[1] 马莉[1] 石磊[4] 

机构地区：[1]山西医科大学第二医院血液科 [2]山西医科大学 [3]山西省儿童医院检验科 [4]山西医科大学第二医院风湿科,太原030001

出　　处：《中国现代医生》2009年第11期11-12,19,共3页China Modern Doctor

摘　　要：目的探讨急性髓系白血病(AML)患者染色体畸变所形成的易位相关融合基因的临床和实验的关系。方法采用多重巢式RT-PCR方法和染色体核型分析技术对60例AML患者的融合基因进行分析。结果18例(30%)正常核型的AML患者分别检测出有PML/RARα、AML1/ETO、TLS/ERG、CBFβ/MYH11和MLL/AF9等5种融合基因的存在。结论多重巢式RT-PCR技术可用于白血病患者初诊时染色体畸变的筛选,可在核型正常的AML患者中检出隐匿的染色体易位,对AML的诊断分型具有重要帮助,进一步指导临床个体化治疗。Objective To investigate the fusion genes derived from chromosome structural aberrations in patients with acute myelocytic leukemia determined by multiplex RT-PCR and explore its potential clinical significance in diagnosis,treatment and prognosis evaluation. Methods Bone marrow samples from 60 patients were analyzed with a novel multiplex nested RT-PCR and examination for chromosome karyotype. Results 5 types of fusion genes such as PML/RARα , AML1/ETO, CBFβ/MYH11 ,TLS/ERG, MLL/AF9 were detected in 18（ 30% ） patients with normal karyotypes by multiplex RT-PCR. Conclusion Multiplex RT-PCR technique can quickly screen chromosome structural aberrations in patients with newly diagnosed leukemia.It is useful in detection of fusion genes in acute myeloid leukemia （AML）with normal karyotypes and it would refine the karyotype analysis,help us to improve classification of the leukemia types of MICM and to direct individulized chemotherapy.

关 键 词：急性髓系白血病 融合基因 多重RT—PCR 正常核型 

分 类 号：R733.7[医药卫生—肿瘤]