荧光原位杂交技术在骨髓增生异常综合征中的应用  

FISH technique application in myelodysplastic syndrome

作　　者：丛佳[1] 周道斌[2,3,4] 赵永强[2,3,4] 李辉[2,3,4] 段明辉[2,3,4] 韩冰[2,3,4] 张薇[2,3,4] 

机构地区：[1]首都医科大学附属北京同仁医院血液内科,北京100005 [2]中国医学科学院 [3]北京协和医学院 [4]北京协和医院血液内科

出　　处：《白血病．淋巴瘤》2013年第9期548-551,554,共5页Journal of Leukemia & Lymphoma

基　　金：中华医学会分子生物学临床应用研究课题（CAMB042010）

摘　　要：目的建立在骨髓增生异常综合征（MDS）诊断过程中的规范化的荧光原位杂交（FISH）检测平台，探讨FISH在MDS诊断中的地位。方法对符合维也纳最低诊断标准的83例MDS患者通过细胞遗传学显带分析（CC）法和FISH法检测染色体异常，比较FISH法与CC法在检测MDS染色体异常克隆中的差异，并搜集患者一般临床资料。结果成功建立包括-5／5q-，＋8，-7／7q-，20q-，-Y探针组合的FISH诊断MDS的检测平台，成功率100％。在83例MDS中，两种方法染色体异常总检m率42.2％，其中CC法检出率30.1％，FISH阳性率33.7％，两种方法的符合率为76.1％。在IPSS分组中，FISH法能提高中危1组的检出率（分别为29.6％、10.0％，P=0.049），而对中危2患者CC法检出率更高（分别为81.2％、62.5％，P=0.036）。CC法检测正常或失败患者中，11例（19.0％）患者FISH法枪测阳性，其IPSS分组以中危1为主10例（90.9％）。用FISH法与CC法分别进行IPSS分组，发现用两种疗法评价IPSS吻合率为86.7％。单纯用CC法结果进行IPSS分组将导致3例患者（3.6％）危险分级下降，而单纯FISH法结果进行IPSS分组将导致8例患者（9.6％）危险分级下降。两种方法检出的染色体异常35例（42.2％），复杂核型13例（15.7％），单一异常核型22例（26.5％）。最常见的染色体异常为＋8，共9例，占10.8％，其次为7号染色体的异常，共7例，占814％。结论FISH技术用于检测MDS染色体异常，方法稳定、灵敏、快速。FISH技术联合CC技术，可提高MDS患者染色体异常的检出率。相比CC技术，FISH技术可以提高IPSS分组中危1患者染色体异常的检出率。FISH技术因包含探针有限，不能完全替代CC法在MDS检测中的作用，但二者可以相互补充。Objective Myelodysplastic spndrome （MDS） patients＂ chromosome aberrations were detected by CC and FISH method respectively, to establish standard FISH platform of diagnosis of MDS, to compare the differences of FISH and CC in the detection of MDS chromosome aberrations. Methods Chinese MDS patients fulfilled with the Vienna minimum diagnostic criteria were tested by CC and FISH method, and the patients＂ clinical data was collected at the same time. Results The standard FISH platform of diagnosis of MDS was established successfully, including probe combination of-5/5q-, ＋8, -7/7q-, 20q-, -Y, the success rate was 100 %. In 83 eases of MDS, chromosome aberrations rate detected by two methods was 42.2 %, 30.1% of CC method and 33.7 % of FISH method, the accordant diagnostic rate was 76.1%. FISH had higher positive rate than CC method （29.6 % vs 18.6 %, P = 0.049） in the IPSS intermedian-risk 1 group, hut lower positive rate in IPSS intermedian-risk 2 group （62.5 % vs 81.2 %, P = 0.036）. There were 11 （19.0 %） cases of clonal chromosome aberrations detected by FISH method but not detected by CC method, in which 10 （90.9 %） cases were intermedian-risk 1 group （IPSS grouping）. Evaluate IPSS by FISH and CC respectively, the accordant rate was 86.7 %. Evaluate IPSS by CC alone will result in 3 patients （3.6 %） decline in risk stratification, and evaluate IPSS by FISH alone will result in 8 patients （9.6 %） decline in risk stratification. There were 35 （42.2 %） cases of chromosome aberrations detected by the two methods, including 13 （15.7 %） cases of complex karyotypc and 22 （26.5 %） cases of single abnormal karyotype. The most common chromosomal aberration was ＋8, a total of 9 （10.8 %） cases, followed by abnormalities of chromosome 7, a total of 7 （8.4 %） cases. Conclusion The study has established standard FISH platform of diagnosis of MDS, the method is stable, sensitive and rapid. FISH technology joint CC technology can improve the patients with MDS chromosom

关 键 词：骨髓增生异常综合征 荧光免疫原位杂交 常规细胞遗传学显带分析 

分 类 号：R551.3[医药卫生—血液循环系统疾病]