筑巢式RT-PCR检测早幼粒细胞白血病PML-RARα融合基因

Detection or PML-RARα fusion gene in acute promyelocytic leukemia(APL) by "nested" retrotranscriptase/polymerase chain reaction (RT-PCR )

目的检测急性早幼粒细胞白血病（APL）中染色体易位t（15;17）所形成的早幼粒细胞白血病一维甲酸受体α（PML-RARα）融合基因转录本。方法筑巢式逆转录酶／多聚酶链反应（RT-PCR）。结果在30例APL中，L型18例，S型10例，另有两例完全缓解者（CR4年和6年）未检测到上述转录本。10例初治APL同时进行PML-RARα融合基因和细胞遗传学检查，10例患者均检测到PML-RARα融合基因，而只有6例检测到t（15;17）易位染色体。结论PML-RARα融合基因检测在APL的诊断、疗效评价及MRD的监测中是一个快速、准确且灵敏的方法。

To detect PML - RARα fusion gene transcripts resulted from chromosomal translocation t (15; l7 ) in acute promelocytic leukernia (APL).Method PML- RARα fusion gene was determined by using 'nested' retrotranscriptase/polymerase chain reaction (RT - PCR) . Results Axnon 30 APL cases investigated, L type was observed in 18 cases, S type in 10 cases. In two cases with complete remission (CR in 4 and 6 years respectively), no PML- RARa fusion gene was detected, The ditection of PML- RARα fusion gene and cytognetic study were carried out simultaneosly in 10 untreated APL patients. PML - RARα fusion gene was observed in all patients, but chromosomal translocation t (15; 17 ) only in 6. Conclusion The detection of PML-RARα fusion gene is a quick, accurate and sensitive methed in the diagnosis, evaluation of therapeutic effect and monitoring of minimal residual disease (MRD) of APL.