动态监测PML-RARα融合基因对急性早幼粒细胞白血病的临床意义

Detect PML-RARα fusion gene and analyse its clinical significance in acute promyelocytic leukemia

目的动态监测急性早幼粒细胞白血病(APL)特有的PML-RARα基因,并探讨其临床意义。方法15例APL患者用全反式维甲酸(ATRA)和其他化疗药物进行诱导缓解、巩固和维持治疗,并进行随访,在病程的不同阶段采集骨髓标本进行形态学检查,并采用实时定量PCR(RQ-PCR)技术检测PML-RARα基因表达。结果15例APL患者入院时PML-RARα均为阳性,治疗中死亡1例、完全缓解14例(93%)。14例完全缓解患者中2例复发,13例在病程中PML-RARα转为阴性。2例复发患者中,1例PML-RARα持续阳性,1例在病程中由阴性转为阳性。13例仍生存者中,至少已连续3次PML-RARα为阴性。结论对APL患者跟踪检测PML-RARα融合基因可早期发现复发病例;RQ-PCR检测PML-RARα对APL诊断、疗效判定及微小残留病变监测是一种有力手段。

Objective To detect PML-RARα fusion gene and analyse its clinical significance in acute promyelocytic leukemia （APL）. Methods Fifteen patients with APL were treated with all-trans retinoic acid （ATRA） and other chemotherapeutic drugs, then followed up. The bone marrow samples were regularly collected for morphological evaluation and PML- RARα fusion gene detection by real-time quantitative RT-PCR assay （RQ-PCR）. Results PML-RARα fusion gene in all APL patients were all positive when hospital admission. During the course of therapy, one patient died and the others were complete remission （CR） （93%）. In the CR cases, two patients recurred, one was continuous positive, the other turned positive from negative after consolidation and maintenance therapy; thirteen patients still survived, whose PML-RARα fusion gene were continuous negative at least three times. Conclusion Detecting PML-RARα fusion gene in APL is important to early discover recurrence, which is useful in diagnosis, assessing response to treat and monitoring minimal residual disease.