急性早幼粒细胞白血病PML/RARα融合基因的检测  

Detection of PML/RARα Fusion Gene in Acute Promyelocyte Leukemia

作　　者：杨光[1] 赵瑾[2] 石磊[3] 王恺[2] 解菊芬[2] 马莉[2] 

机构地区：[1]山西医科大学儿科系 [2]山西医科大学第二医院血液科 [3]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36-37,共2页China Modern Doctor

摘　　要：目的探讨荧光原位杂交技术(FISH)在检测急性早幼粒细胞白血病(APL)患者PML/RARα融合基因中的价值。方法对初诊的30例及20例疑似APL的患者进行FISH技术检测PML/RARα融合基因,对治疗过程中PML/RARα融合基因阳性细胞比例进行动态观察,进而协助诊断和指导治疗。结果30例APL中PML/RARα融合基因阳性率90%(27/30),1例AML1/ETO融合基因阳性,确诊为AML-M2;20例未确诊者中AML1/ETO融合基因阳性率15%(3/20),PML/RARα融合基因阳性率50%(10/20),其余7例未检测到以上两种融合基因。达到完全缓解(CR)后有7例融合基因阴性,随访至CR后2年,发现7例PML/RARα融合基因阳性比例较高患者分别于1～3个月后复发。结论FISH技术对APL的诊断具有高灵敏度和高准确度,并精确定位复杂核型中融合信号的位置,可用以确定白血病类型,指导临床治疗和进行治疗后的疗效监测。Objective To investigate the value of tluorescence in situ hybridization（FISH ） technique in the detection of fusion gene in acute promyelocyte leukemia （APL）. Methods FISH was used to detect the PML/RARα fusion gene in 30 patients with newly diagnosed and 20 cases undetermined as acute promyelocyte leukemia （APL）. FISH was also utilized to trace the PML-RARα fusion gene changes in patients during the courses of treatment. Results Among 30 cases,27 were PML/RARα positive. 1 case was detected AML1/ETO fusion gene. In 20 unconfirmed APL or AML-M2,3 cases showed AML1/ETO and l0 showed PML/RARα fusion gene.6 patients with negative fusion gene after 12 month of CR. The results of the 2 years＇follow-up after CR showed that there were 7 patients with higher proportion of PML/RARα fusion gene. These 7 patients relapsed within 3 months. Conclusion FISH is more sensitive for molecularly diagnosis of APL, and can identify the precise location of the fusion signals in complex karyotype.It can be used to diagnose,guide the suitable chemotherapy regimen and supervise the efficacy of the treatment in patients with APL.

关 键 词：急性早幼粒细胞白血病 荧光原位杂交技术 PML/RARΑ融合基因 

分 类 号：R733.7[医药卫生—肿瘤]