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目的探讨荧光原位杂交(FISH)及常规细胞遗传学染色体核型分析技术对急性早幼粒细胞白血病(APL)患者PML/RARa融合基因检测的灵敏度和特异度及其在临床中应用价值。方法选取51例APL患者,应用常规细胞遗传学染色体核型分析方法及FISH技术检测患者PML/RARa融合基因的表达情况。结果在进行常规染色体核型分析的51例患者中41例(80.4%)为t(15;17)(q22;q21)易位的核型异常,其中38例(74.5%)为单纯t(15;17)(q22;q21)易位的核型异常,3例(5.9%)为伴t(15;17)(q22;q21)易位的复杂核型异常;10例(19.6%)无t(15;17)(q22;q21)易位的核型异常中1例(2.0%)为不伴t(15;17)(q22;q21)易位的复杂核型异常,1例(2.0%)为t(11;17)(q13;q21)易位的核型异常,3例(5.9%)为正常核型,5例(9.8%)未见分裂相。在进行FISH检测的51例患者标本中48例(94.1%)有PML/RARa融合基因异常,同时进行常规染色体核型分析和FISH检测的41例患者同时存在t(15;17)(q22;q21)易位的核型异常和PML/RARa融合基因异常,两者符合率为100%;在15例正常骨髓标本的FISH检测中15例标本结果均未发现有PML/RARa融合基因,提示FISH检测技术具有较高的敏感度和特异性。结论对于初发的APL患者,常规染色体核型分析和间期荧光杂交技术结合分析APL患者细胞遗传学特征是诊断该病的有力工具,FISH技术操作更为简单,省时直观。
Objective To investigate the sensitivity and specificity of fluorescence in situ hybridization (FISH) and conventional cytogenetic karyotype analysis techniques in the detection of PML/RARa fusion gene in patients with acute promyelocytic leukemia (APL) and its clinical application value. Methods A total of 51 patients with APL were selected and their expression of PML/RARa fusion gene was detected by routine cytogenetic karyotype analysis and FISH. Results Forty-one (80.4%) of the 51 patients undergoing routine karyotype analysis were karyotypic abnormalities of t(15;17)(q22;q21) translocation, of which 38(74.5%) were simple t(15). 17) Karyotypic abnormalities of (q22;q21) translocation, 3 cases (5.9%) were complex karyotypic abnormalities with t(15;17)(q22;q21) translocation; 10 cases (19.6%) without t (15;17) One (2.0%) of the (q22;q21) translocation karyotype abnormalities were complex karyotypic abnormalities without t(15;17)(q22;q21) translocation, and one case (2.0%). The karyotypic abnormality of t(11;17)(q13;q21) translocation was normal karyotype in 3 cases (5.9%), and no fission stage was observed in 5 cases (9.8%). Among the 51 patients with FISH, 48 (94.1%) had PML/RARa fusion gene abnormalities, while 41 patients with conventional chromosome karyotype analysis and FISH had simultaneous t(15;17)(q22;q21) ) The karyotypic abnormalities of the translocations and PML/RARa fusion gene abnormalities were both 100%. FISH detection of 15 normal bone marrow specimens revealed no PML/RARa fusion gene in 15 specimens, suggesting FISH detection. The technology has high sensitivity and specificity. Conclusion For patients with newly diagnosed APL, conventional chromosome karyotype analysis and interphase fluorescence hybridization combined with cytogenetic features of patients with APL are powerful tools for diagnosing the disease. FISH technology is more simple and time-saving.