八探针荧光原位杂交联合R显带技术诊断儿童急性淋巴细胞白血病  

Application of eight-probe fluorescence in situ hybridization and R-banding karyotype analysis for the diagnosis of acute lymphoblastic leukemia

作　　者：赵鼎[1] 刘帅[2] 郭振欣[1] 李瑞[1] 

机构地区：[1]郑州市儿童医院检验科遗传室,450053 [2]郑州大学第一附属医院检验科细胞室,450052

出　　处：《中华医学遗传学杂志》2016年第1期9-12,共4页Chinese Journal of Medical Genetics

摘　　要：目的探讨八探针荧光原位杂交（fluorescenceinsituhybridization，FISH）联合R显带染色体核型分析应用于儿童急性淋巴细胞白血病（acutelymphoblasticleukemia，ALL）诊断的价值。方法应用八探针FISH（MYC、P16、E2A、CHicz／D1021／D1721、TEL／AMLl、MLL、BCR／ABLl、IGH的DNA探针）和R显带染色体核型分析技术，对237例ALL患儿进行了联合检测。结果八探针FIsH技术在135例患儿中总共检出了细胞遗传学改变，总体阳性率为56．96％，包括MYC、P16、E2A、CHIC2／DIOZ1／D1721、TEL／AMLj、MLL、BCR／ABLl、IGH等8种细胞遗传学异常。而R显带核型分析对于相对应的细胞遗传学异常仅检出48例，另检出14例八探针FISH未能检出的异常，总阳性率为26．16％。两种方法检出阳性率的差异有统计学意义（P〈O．05）。结论八探针FISH技术较R显带染色体核型分析具有准确、高效、省时、省力等优点，可与染色体核型分析有效互补，并且每种细胞遗传学异常都可为儿童ALL的诊断、预后评估和个体化治疗提供重要依据。Objective To assess the value of eight-probe fluorescence in situ hybridization （FISH） and R-banding karyotype analysis for the diagnosis of acute lymphoblastic leukemia （ALL）. Methods With the eight-probe FISH （using probes for MYC, P16, E2A, CHIC2/DlOZ1/D17Z1, TEL/AML1, MLL, BCR/ABL1, and IGH） and R-banding karyotype analysis, 237 cases of ALL were analyzed. Results Cytogenetic changes were detected in 135 （56.96%） of all cases, which have involved MYC, P16, E2A, CHIC2/D10Z1 /D17Z1, TEL/AML1, MLL, BCR/ABL1, and IGH polyploidies. R-banding karyotype analysis has only detected abnormalities in 48 of such cases, in addition with 14 abnormalities missed by the FISH probes, which have given a total positive rate of 26.16%. The detection rate of the two methods has differed significantly （P〈0.05）. Conclusion Compared with the R-banding karyotype analysis, the eight- probe FISH is more accurate and efficient. Diagnosis of cytogenetic abnormalities for children with ALL using the combined method can provide a basis for evaluation of prognosis as well as personalized therapy.

关 键 词：荧光原位杂交 R显带 染色体核型分析 急性淋巴细胞白血病 

分 类 号：R733.71[医药卫生—肿瘤]