CAJ | 학술논문

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。
목적：실시형광정량PCR방법검측TEL/AML1、BCR/ABL、E2A/PBX1、MLL/AF4사충융합기인재인동급성림파세포백혈병(ALL)중적표체，탐토기재감측ALL환인미소잔류병(MRD)적림상개치。방법용실시형광정량PCR방법검측상술사충융합기인재376례ALL환인중적표체，총결융합기인양성환인적치료반응정황。결과(1)초진시검측도융합기인양성공153례，TEL/AML1양성조91례(24.2%)，BCR/ABL 양성조26례(6.9%)，E2A/PBX1양성조27(7.2%)，MLL/AF4양성조9(2.4%)。(2)TEL/AML1양성조유도화료결속유13례융합기인미전음，강화치료말잉유2례융합기인미전음，수방기간무복발；BCR/ABL양성조유도화료결속유19례융합기인미전음，강화치료말잉유9례융합기인미전음，수방중유5례(19.2%)복발，2례사망；E2A/PBX1양성조유도화료결속유8례융합기인미전음，강화치료기말잉유4례융합기인미전음，수방중1례(3.7%)복발；MLL/AF4양성조유도화료결속유6례융합기인미전음，강화치료말잉유3례융합기인미전음，수방중유2례(22.2﹪)복발，1례사망。결론실시형광정량PCR검측융합기인적표체수평시감측MRD、예측복발、지도개체화치료적량호지표。
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 fu-sion genes levels by real-time polymerase chain reaction is useful for monitoring minimal residual disease ,predicting relapse and guiding individual treatment.