慢性粒细胞白血病患者费城染色体的遗传学特征  

Genetic characteristics of Philadelphia chromosome in patients with chronic myelogenous leukemia

作　　者：黄燕[1] 刘勇[1] 陈海雷 沈妙娜 黄倩雯 阮嘉钰 林晓英 Huang Yan;Liu Yong;Chen Hailei;Shen Miaona;Huang Qianwen;Ruan Jiayu;Lin Xiaoying(Sun Yat-Sen Memorial Hospital,Sun Yat-Sen University,Guangzhou 510120,China)

机构地区：[1]中山大学孙逸仙纪念医院,广州510120

出　　处：《国际医药卫生导报》2020年第14期2064-2067,共4页International Medicine and Health Guidance News

摘　　要：目的单中心回顾性分析慢性髓系白血病费城染色体的遗传学特征。方法收集本院2016年1月至2019年6月诊断的70例慢性髓系白血病患者的临床资料、BCR/ABL双色双融合探针(DCDF)和G显带染色体核型分析结果。结果BCR/ABL双色双融合探针(DCDF)检测70例CML均为阳性,阳性率为100.00%;经典阳性信号1R1G2Y占67.14%(47/70);非经典阳性信号中1R1G1Y占15.71%(11/70),2R2G1Y占7.14%(5/70),1R2G1Y占2.86%(2/70),1R2G1Y与1R2G2Y混合占1.42%(1/70),1R2G1Y与1R1G2Y混合占4.29%(3/70),2R1G1Y与1R1G2Y混合占1.42%(1/70);常规染色体核型G显带阳性检出率为95.00%(57/60),经典t(9;22)易位占92.98%(53/57),伴+Ph、+8、inv(16)、-Y等其他染色体异常占9例;复杂变异易位占7.02%(4/57)。结论慢性髓系白血病患者费城染色体遗传学特征各有不同,结合FISH和染色体检测对疾病进展有指导意义。Objective To retrospectively analyze the genetic characteristics of Philadelphia chromosomein patients with chronic myeloid leukemia. Methods The Clinical data and results of BCR/ABL dual color dualfusion probe (DCDF) and G banding chromosome karyotype analysis were collected from 70 patients with chronicmyeloid leukemia diagnosed at our hospital from January, 2016 to June, 2019. Results BCR/ABL dual color dualfusion probe (DCDF) showed that 70 cases of CML were positive, with a positive rate of 100.00%. The classicalpositive signal 1R1G2Y accounted for 67.14% (47/70). Among the non-classical positive signals, 1R1G1Yaccounted for 15.71% (11/70), 2R2G1Y 7.14% (5/70), 1R2G1Y 2.86% (2/70), 1R2G1Y mixed with 1R2G2Y 1.42%(1/70), 1R2G1Y mixed with 1R1G2Y 4.29% (3/70), and 2R1G1Y mixed with 1R1G2Y 1.42% (1/70). The positivedetection rate of G banding of conventional karyotype was 95.00% (57/60);t (9;22) translocations accountedfor 92.98% (53/57);9 cases were associated with +Ph, +8, inv(16), -Y and other chromosomal abnormalities.Complex mutation translocations accounted for 7.02% (4/57). Conclusion The Philadelphia chromosomegenetic characteristics of patients with chronic myeloid leukemia are different, and the combination of FISH andchromosome testing is of guiding significance for disease progression.

关 键 词：慢性粒细胞白血病 FISH PH染色体 变异易位 BCR/ABL双色双融合探针 

分 类 号：R733.72[医药卫生—肿瘤]