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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 RT-PCR detection in the diagnosis of APL. METHODS: The bone marrow samples were treated with the direct method or the 24 h culture method. The t(15;17) translocations were detected by the R-band or G-band method. PML-RARa fusion gene was detected by RT-PCR. RESULTS: There were M355 cases diagnosed in 3 cases, M3 or M2 in the suspected cases, t(15;17) in 50 cases detected by chromosome detection, and the sensitivity rate was 90.91%. Three cases with uncorrectable morphology were found to have chromosome t(15;17). The diagnosis was M3V type; PML-RARa fusion gene was detected in patients with t(15;17) translocation, and no T(15;17) translocation was detected in 3 cases. Positive RML-RARa was detected. Three cases of misdiagnosis were excluded by chromosome and fusion gene detection. Conclusion: The cytogenetic t(15;17) and the fusion gene RML-RARa detection are reliable indicators for the diagnosis of APL, and RT-PCR fusion gene detection is more sensitive.