摘要
目的研究慢性淋巴细胞白血病(chronic lymphocytic leukemia,CLL)临床遗传学诊断的意义。方法通过荧光原位杂交技术(fluorescence in situ hybridization,FISH)采用RB1(13q14.1)、D13S25(13q14.3)、p53(17p13.1)、ATM(11q22.3)及CSP12三体五组探针中68例慢性淋巴细胞白血病阳性的结果进行回顾性分析。结果所检测的68例异常样本中,1种探针异常为60例(88.24%);2种探针结果异常为6例(8.82%),其中RB1和p53双阳性2例(2.94%),D13S25和ATM双阳性4例(5.88%);2种以上探针结果异常2例(2.94%)。经χ~2检验与常规细胞遗传学(conventional cytogenetics,CC)检测结果比较,两种方法所得结果有差异,且差异具有统计学意义(χ~2=32.416,P<0.01)。FISH检测结果与Binet分期具有相关性(P=0.038),与Rain分期没有相关性(P=0.358)。通过不同探针的异常结果,采用相应的治疗方案均取得了理想的临床效果。结论 FISH在CLL疾病诊断中具有独立的应用价值,是常规细胞遗传学有力的补充,并且根据各基因异常的特点在辅助临床分期、治疗及预后评价均有重要的应用价值。
Objective To investigate the significance of clinical genetic diagnosis methods on chronic lymphocytic leukemia （CLL）. Methods Retrospective analyses were performed on 68 sample from CLL cases which had been identified as positive by fluorescence in situ hybridization （FISH） using five probes including RB1 （ 13q14. 1 ）, D13S25 （ 13q14.3 ）, p53 （ 17p13.1 ）, ATM （ 11 q22. 3 ） and CSP12. Results Among these 68 samples, 60 samples （88.24%） were positive in one of five probes; 6 samples （8. 82% ） were positive in two of five probes, including 2 sample （2. 94% ） with RB1 （ ＋ ） p53（ ＋ ） and 4 samples （5.88%） with D13S25（ ＋ ） ATM（ ＋ ） ; and another 2 samples （2.94%） were positive in more than two probes. The X2-test analysis showed that there was significant difference between the results of FISH and conventional cytogenetics （CC） （X2 = 32. 416, P 〈 0. 01 ）. It was also found that FISH results were correlated with Binet stages （P =0. 038） . but not correlated with Rain stages （P = 0. 358）. The corresponding therapy strategies were conducted according to the FISH results, and the satisfying therapy effect was obtained. Conclusion FISH is an important and valuable method in the CLL diagnosis, and can be considered as a powerful supplement to the conventional cytogenetics analysis. The profile of abnormal genes identified by FISH has important indications for clinical stages, therapy and prognostic evaluation.
出处
《哈尔滨医科大学学报》
CAS
2017年第2期131-134,共4页
Journal of Harbin Medical University
关键词
慢性淋巴细胞白血病
荧光原位杂交技术
常规细胞遗传学
chronic lymphocytic leukemia
fluorescence in situ hybridization
conventional cytogenetics
