儿童急性淋巴细胞白血病微小残留病的RQ-PCR检测分析  

Analysis of minimal residual disease in children with acute lymphoblastic leukemia by RQ-PCR

作　　者：刘志强[1] 柯江维[1] 乐萍[1] 段荣[1] 

机构地区：[1]江西省儿童医院检验科,江西南昌330006

出　　处：《实验与检验医学》2015年第5期542-545,共4页Experimental and Laboratory Medicine

基　　金：江西省卫计委科技计划项目(编号:20133157)

摘　　要：目的实时荧光定量PCR方法检测TEL/AML1、BCR/ABL、E2A/PBX1、MLL/AF4四种融合基因在儿童急性淋巴细胞白血病(ALL)中的表达,探讨其在监测ALL患儿微小残留病(MRD)的临床价值。方法用实时荧光定量PCR方法检测上述四种融合基因在376例ALL患儿中的表达,总结融合基因阳性患儿的治疗反应情况。结果 (1)初诊时检测到融合基因阳性共153例,TEL/AML1阳性组91例(24.2%),BCR/ABL阳性组26例(6.9%),E2A/PBX1阳性组27(7.2%),MLL/AF4阳性组9(2.4%)。(2)TEL/AML1阳性组诱导化疗结束有13例融合基因未转阴,强化治疗末仍有2例融合基因未转阴,随访期间无复发;BCR/ABL阳性组诱导化疗结束有19例融合基因未转阴,强化治疗末仍有9例融合基因未转阴,随访中有5例(19.2%)复发,2例死亡;E2A/PBX1阳性组诱导化疗结束有8例融合基因未转阴,强化治疗期末仍有4例融合基因未转阴,随访中1例(3.7%)复发;MLL/AF4阳性组诱导化疗结束有6例融合基因未转阴,强化治疗末仍有3例融合基因未转阴,随访中有2例(22.2﹪)复发,1例死亡。结论实时荧光定量PCR检测融合基因的表达水平是监测MRD、预测复发、指导个体化治疗的良好指标。Objective To establish a real-time polymerase chain reaction for quantitative detection of TEL/AML1,BCR/ABL,E2A/PBX1, MLL/AF4 fusion gene in childhood acute lymphoblastic leukemia（ALL） and explore its clinical value in monitoring minimal residual disease. Methods Real-time polymerase chain reaction was used to quantitatively detect the expression of TEL/AML1, BCR/ABL, E2A/PBX1, MLL/AF4 fusion gene in 376 newly diagnosed ALL patients. And then, therapeutic response was retrospectively analyzed Results（1）The fusion genes were positive in 153 ALL children, 91 cases（24.2%） expressed TEL/AML1,26 cases（6.9%） expressed BCR/ABL, 27 cases（7.2%） expressed E2A/PBX1, 9 cases（2.4%） expressed MLL/AF4.（2） 13 cases of TEL/AML1 positive children still expressed the fusion gene at the end of induction treatment, 2 cases still expressed the fusion gene at the end of intensive treatment, and none relapsed during follow-up. 19 cases of BCR/ABL positive children still expressed the fusion gene at the end of induction treatment, 9 cases still expressed the fusion gene at the end of intensive treatment, 5 cases relapsed and 2 cases died during follow-up. 8 cases of E2A/PBX1 positive children still expressed the fusion gene at the end of induction treatment,4 cases still expressed the fusion gene at the end of intensive treatment, and 1 case relapsed during follow-up.6 cases of MLL/AF4 positive children still expressed the fusion gene at the end of induction treatment,3 cases still expressed the fusion gene at the end of intensive treatment, 2 cases relapsed and 1 case died during follow-up. Conclusion Measurement of fusion genes levels by real-time polymerase chain reaction is useful for monitoring minimal residual disease,predicting relapse and guiding individual treatment.

关 键 词：儿童 急性白血病 融合基因 

分 类 号：R733.7[医药卫生—肿瘤] R446.62[医药卫生—临床医学]