PML/RARa融合基因检测在早幼粒细胞性白血病鉴别诊断中的意义

Implication on differentiate diagnosis of acute promyelocytic leukemia by detection of PML/RARa fusion gene

目的 对MIC分型不能确诊的早幼粒细胞性白血病进行鉴别诊断。方法 应用筑巢式逆转录聚合酶链反应(RT-PCR)检测PML/RARa融合基因。结果 9例不能完全确诊的患者,5例PML/RARa阳性,另4例结合MIC分型与融合基因结果分别诊断为MDS,CML,M_2,M_2复发。2例长期完全缓解的APL患者,临床和遗传学达缓解,但1例融合基因仍然阳性。结论 利用RT-PCR检测PML/RARa融合基因不但可以用来进行早幼粒细胞性白血病鉴别诊断,而且可以用来供临床选择治疗药物、预后判断、疗效观察以及微量残留白血病细胞检测。

Objective To differentiate acute promyelocytic leukemia with difficult diagnosis by MIC assay. Method Nested RT-PCR method was used to detect PML/RARa fusion gene. Results PML/RARa fusion gene were positive in five patients out of nine with difficult diagnosis, another four patients were MDS, CML, M2 and M2 recurrent respectively. One out of two patients with clinical and genetic CR was positive. Conclusion PML/RARa fusion gene was used to choose the optical drugs,predict prognosis, detection of minimal residual leukemia cells (MRLC) and the development of APL.