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目的 探讨临床表现急性早幼粒细胞白血病 (APL)明显特征而核型分析正常或非典型t(15 ;17)患者是否伴有分子异常及荧光原位杂交 (FISH)技术在APL诊断中的应用价值。方法 应用常规细胞遗传学分析APL初诊患者 193例 ,选取其中 32例进行FISH法检测。部分病例应用RT PCR作补充检测。结果 193例APL患者中 132例 (6 8.4 % )常规核型分析检出t (15 ;17) (q2 2 ;q12 )。 193例中选出 32例按核型分析结果分为 3组 :第 1组 14例检出t(15 ;17) ;第 2组 13例未检出t(15 ;17) ;第 3组 5例为涉及 15和 17号染色体的变异复杂易位。第 1组病例FISH检测结果均为阳性 ,与核型分析相符。第 2组核型分析未发现t(15 ;17) ,但FISH结果证实该组病例均具有PML/RARα融合基因。第 3组FISH检测不但检出PML/RARα融合基因 ,而且确定其阳性信号不在 15 q上 ,而位于除 15 ,17号染色体外的其他染色体上。结论 临床表现APL特征的患者 ,不论核型分析是否发现典型t(15 ;17) ,FISH和RT PCR检测均存在PML/RARα融合基因。在APL的诊断方面 ,FISH法不仅具有高灵敏度和高准确度 ,而且可以精确定位复杂核型中融合信号的位置。因此对于常规细胞遗传学分析不能确定的APL初诊患者 ,FISH检测是必要的补充。
Objective To investigate the clinical features of acute promyelocytic leukemia (APL) and to analyze whether karyotype analysis of normal or atypical t (15; 17) patients with molecular abnormalities and fluorescence in situ hybridization (FISH) in the diagnosis of APL value. Methods 193 cases of newly diagnosed APL patients were analyzed by routine cytogenetics and 32 cases were selected for FISH. In some cases, RT PCR is used as a supplementary test. RESULTS: Of the 193 APL patients, 132 (6 8.4%) routine karyotyping detected t (15; 17) (q2 2; q12). Among the 193 cases, 32 cases were divided into three groups according to the results of karyotype analysis: 14 cases of group 1 were detected t (15; 17); 13 cases of group 2 were not detected (15; 17); Group 3 An example is a variant complex translocation involving chromosomes 15 and 17. FISH test results were positive in group 1, consistent with karyotype analysis. Group 2 karyotype analysis found no t (15; 17), but FISH results confirmed that the group of patients with PML / RARα fusion gene. The third group of FISH detection not only detected the PML / RARα fusion gene, but also determined that the positive signal was not on 15 q, but located on chromosomes other than chromosomes 15 and 17. Conclusions Patients with clinically manifested APL have PML / RARα fusion genes both in FISH and RT PCR, regardless of whether a karyotyping is found in a typical t (15; 17). In the diagnosis of APL, the FISH method not only has high sensitivity and high accuracy, but also precisely locates the fusion signal in complex karyotypes. Therefore, for routine APC cytogenetic analysis can not determine the initial APL patients, FISH detection is necessary to supplement.