荧光原位杂交技术检测43例慢性淋巴细胞白血病患者基因异常  

Detection of Gene Abnormalities in 43 Cases of Chronic Lymphocytic Leukemia by Fluorescence in Situ Hybridization

作　　者：荆源[1] 林樉[1] 王芳婷[1] 于家文 姜凤[1] JING Yuan;LIN Shuang;WANG Fang-Ting;YU Jia-Wen;JIANG Feng(Department of Hematology,The First Affiliated Hospital of Dalian Medical University,Blood Disease MICM Key Laboratory,Dalian 116011,Liaoning Province,China)

机构地区：[1]大连医科大学附属第一医院血液科大连市血液病MICM重点实验室,辽宁大连116011

出　　处：《中国实验血液学杂志》2018年第4期1038-1043,共6页Journal of Experimental Hematology

摘　　要：目的:探讨荧光原位杂交(fluorescence in situ hybridization,FISH)技术对慢性淋巴细胞白血病(chronic lymphocytic leukemia,CLL)诊断及预后评估的价值。方法:应用常规R显带方法对43例CLL患者进行染色体核型分析,同时应用FISH技术对43例CLL患者的D13S25、RB1、ATM、P53和CEP 12基因进行检测分析。结果:43例CLL患者染色体异常检出率为9.3%(24/43),涉及数目异常和结构异常,异常染色体涉及2号、6号、14号和性染色体。染色体核型正常的患者较多,占79.1%,同时有5例CLL患者未见分裂象。FISH阳性检出率为55.8%,其中D13S25基因缺失阳性率最高,占37.2%;其次依次为RB1基因缺失阳性检出率为20.9%,CEP 12基因扩增阳性检出率为16.3%,ATM基因缺失阳性检出率为9.3%,P53基因缺失阳性检出率为7.0%。在24例FISH阳性的患者中,有20例患者染色体核型正常,3例未见分裂象,只有1例染色体核型异常,但并不涉及FISH检测出的阳性基因。结论:FISH技术能够大大提高CLL患者细胞遗传学异常的检出率,是CLL患者遗传学检测的重要手段,但由于检测的探针数量有限,对于CLL患者仍需使用FISH技术结合染色体核型分析来提高细胞遗传学异常的检出率,为CLL的临床诊断及预后判断提供依据。Objective： To explore the value of fluorescence in situ hybridization（ FISH） in diagnosis and prognosis evaluation of chronic lymphocytic leukemia（ CLL）. Methods： R banding technique was used for karyotype analysis in43 cases of CLL,and fluorescence in situ hybridization（ FISH） technique was used for analysis of 5 genes in 43 cases of CLL,including D13 S25,RB1,ATM,P53 and CEP 12. Results： The detection rate of chromosome abnormality was 9. 3% for the 43 cases. The chromosome karyotype abnormality was involoved in the number abnormality and the structural abnormality,including No. 2,6,14,and sex chromosome. The patients with normal chromosome karyotype were more common（ 79. 1%）. At the same time,mitotic figure in 5 CLL patients did not observed. The positive rate of FISH detection was 55. 8%（ 24/43）. Among which,D13 S25 deletion was the highest and reached to 37. 2%,followed by RB1 deletion（ 20. 9%）,CEP 12 amplification（ 16. 3%）,ATM deletion（ 9. 3%） and P53 deletion（ 7. 0%）. In 24 FISH-positive cases,20 cases displayed the normal chromosome karyotype,and in 3 cases the mitotic figure was absent. There was only one case of abnormal chromosome,which was not involved in the positive gene tested by FISH.Conclusion： FISH is an important means of CLL genetic detection,which can greatly raise the detection rate of cytogenetics abnormalities in CLL,but the probe quantity is limited,so it is necessary to use FISH technology combined with chromosome karyotype analysis so as to improve the detection rate of abnormal cytogenetics,and provide the basis for the clinical diagnosis and prognosis of CLL.

关 键 词：荧光原位杂交 慢性淋巴细胞白血病 染色体 

分 类 号：R733.72[医药卫生—肿瘤]