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本研究主要探讨急性早幼粒细胞白血病(APL)细胞遗传学特征并比较间期荧光原位杂交技术(I-FISH)和常规染色体核型分析技术(CC)。应用常规染色体核型分析及I-FISH技术对157例APL患者细胞遗传学特征进行研究,采用短期培养法制备骨髓细胞染色体,应用染色体R显带技术对136例拟诊APL患者进行常规细胞遗传学检测,其中对45例同时进行了CC和I-FISH检测,对其余21例仅进行I-FISH分析。结果表明:136例进行CC分析的APL患者中,120例(88.2%)存在t(15;17)(q22;q21)易位,其中107例(78.7%)为单纯t(15;17)(q22;q21)易位,13例(9.6%)为伴t(15;17)(q22;q21)异位的复杂核型异常;在16例无t(15;17)(q22;q21)易位的APL患者中1例(0.7%)为t(5;17)(q24;q21)易位,3例(2.2%)正常核型,12例(8.8%)未见分裂相。在所有66例进行FISH检测的APL患者中,64例存在PM I/RARα融合基因,其阳性率为97.0%,灵敏度显著高于常规染色体核型分析(p=0.041);而5例其他类型AML患者和5例正常标本均未检出PM I/RARα融合基因。结论:常规染色体核型分析和间期荧光杂交技术联合分析APL患者细胞遗传学特征是诊断该病和监测微小残留病的有力工具。
The aim of this study was to investigate the cytogenetic features of acute promyelocytic leukemia (APL) and compare interphase fluorescence in situ hybridization (I-FISH) with conventional chromosomal karyotyping (CC). Using conventional karyotype analysis and I-FISH technique to study the cytogenetic characteristics of 157 patients with APL, using short-term culture method to prepare chromosomes of bone marrow cells, the use of R chromosome banding technique for 136 cases of suspected APL patients with conventional cytogenetics Detected in 45 cases of simultaneous CC and I-FISH detection, the remaining 21 cases were only I-FISH analysis. The results showed that there were t (15; 17) (q22; q21) translocations in 120 patients (88.2%) in APL patients who underwent CC analysis. Among them, 107 (78.7% 13 cases (9.6%) were complicated karyotype abnormalities with ectopic t (15; 17) (q22; q21); in 16 cases without t (15; 17) One patient (0.7%) had t (5; 17) (q24; q21) translocations, 3 patients (2.2%) had normal karyotype, and 12 patients (8.8%) had no split phase in 1 patient (0.7%). In all 66 cases of APL patients with FISH, 64 cases had PM I / RARα fusion gene, the positive rate was 97.0%, the sensitivity was significantly higher than the conventional chromosome karyotype analysis (p = 0.041); while 5 cases of other types of AML No PM I / RARα fusion gene was detected in patients and 5 normal specimens. CONCLUSION: Conventional karyotype analysis and interphase fluorescence hybridization combined with cytogenetic characteristics in patients with APL are powerful tools for the diagnosis of the disease and the monitoring of minimal residual disease.