细胞遗传学和RT-PCR对APL诊断的临床意义

The Clinical Significance of Cytogenetics and RT-PCR in the Diagnosis of Acute Promyelocyte Leukemia

目的：探讨细胞遗传学及ＲＴ-ＰＣＲ检测对ＡＰＬ诊断的临床意义。方法：直接法或 ２４ ｈ培养法处理骨髓标本，采用Ｒ带或Ｇ带方法显带检测ｔ（１５；１７）易位，ＲＴ－ＰＣＲ检测ＰＭＬ－ＲＡＲａ融合基因。结果：形态诊断Ｍ３５５例，３例疑诊Ｍ３或Ｍ２；染色体检测５０例发现ｔ（１５；１７），敏感率９０．９１％，３例形态不能肯定诊断者染色体发现ｔ（１５；１７），诊断为Ｍ３Ｖ型；有ｔ（１５；１７）易位者均检测到ＰＭＬ－ＲＡＲａ融合基因，３例无ｔ（１５；１７）易位者，ＲＭＬ－ＲＡＲａ检测阳性。３例误诊者均经染色体及融合基因检测排除。结论：细胞遗传学ｔ（１５；１７）及融合基因ＲＭＬ－ＲＡＲａ检测是诊断ＡＰＬ的可靠指标，ＲＴ－ＰＣＲ融合基因检测更为敏感。

Objective:To investigate the clinical significance of cytogenetics and RTPCR in the diagnosis of APL. Methods: R and Q binding technique translocation t (15;17) and RT-PCR detect PML-PARa fusion gene were used. Results: 58 patients were primary diagnosed as APL based on morphologic feature, 50 patients (90.91 % ) were found to have t (15; 17) and 3 cases morphological suspected APL were confirmed as M3v according to cytogenetics. The patients with t (15;17) have all detected PML-RARa fusion gene, 3 patients without (15;17 ) were found PMLRARa, 3 cases were morphological misdiagnosed. Conclusion:Cytogenetics and RTPCR detection of t (15; 17 ) (q22,q12 ) and PML-RARa fusion gene were reliable evidences RT-PCR method was more sensitive than other methods.