急性早幼粒细胞白血病PML-RARα融合基因异构体的临床意义

Clinical Relevance of PML RARα Fusion Gene Isoforms in Patients with Acute Promyelocytic Leukemia

目的：探讨急性早幼粒细胞白血病（ＡＰＬ）ＰＭＬ－ＲＡＲα融合基因异构体及其临床关系。方法：用逆转录／聚合酶链反应（ＲＴ／ＰＣＲ）检测２１例初诊ＡＰＬ患者细胞中ＰＭＬ－ＲＡＲα融合基因转录本，并分析其对临床特征的可能不同影响。结果：在ＡＴＲＡ诱导治疗过程中，短型ＰＭＬ－ＲＡＲα异构体ＡＰＬ组的早期死亡和复发率（４／８）（５０％）高于长型ＰＭＬ－ＲＡＲα异构体组（２／１３）（１５．４％）；与长型异构体相反，存活期２月至２年患者含短型异构体的比例（７５％）大于存活期２年以上组（３３．３％）；未观察到患者血液学参数改变与不同ＰＭＬ－ＲＡＲα异构体有关。结论：与长型ＰＭＬ－ＲＡＲα异构体组ＡＰＬ患者相比，短型ＰＭＬ－ＲＡＲα异构体组的预后可能更差。

Objective:To illustrate the clinical relevance of distinct PML RARα fusion gene isoforms in acute promyelocytic leukemia(APL).Methods:The retrotranscriptase/polymerase chain reaction(RT/PCR) was used to evaluate the clinical relevance of the long (L) or short (S) PML RARα fusion mRNA isoforms in 21 initial patients with APL.Results:There were more early deaths during the all transretinoic acid(ATRA) induction treatment and more relapses within 2 years of complete remission (CR) in the S type (4 of 8 case) than that in the L type group (2 of 13).Compared with L type isoforms,the ratio of S type was more in patients survived 2 months through 2 years than those survived beyond 2 years (75% Vs 33.3%). It was not found that relations between hematological parameters and PML RARα isoforms.And PML RARα isoforms were remained negative test in 4 cases of CR 3 years more.Conclusion:The S type PML RARα isoforms may be involved much poor prognosis than L type PML RARα isofoms in APL.