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荧光原位杂交技术和常规细胞学分析在骨髓异常增生综合征患者中的应用 被引量:3

The application of fluorescence in suit hybridization and conventional cytogenetic in patients with myelodysplastic syndrome
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摘要 目的探讨荧光原位杂交技术(FISH)和常规细胞学(CC)在骨髓异常增生综合征(MDS)患者中的应用。方法采用R显带技术对186例MDS患者进行CC分析,同时应用6组组合探针进行FISH检测,并采用统计学分析,比较2种方法的检出率。结果 186例MDS患者染色体核型异常检出率为33. 5%,而FISH异常检测率为41. 9%; CC分析联合FISH可以检测出46. 8%的异常检出率;采用修订版国际预后积分系统(IPSS-R)进行等级评分,FISH阳性率也明显高于CC,其中极高危组患者差异有统计学意义(χ2=4. 710,P <0. 05);在世界卫生组织(WHO)分型评分中,难治性贫血伴原始细胞增多-1(RAEB-1)组的FISH检测异常阳性率高于CC法,差异有统计学意义(χ2=4. 952,P <0. 05)。结论 FISH能有效提高MDS患者染色体的异常检出率,特别是针对核型分析失败及小克隆异常的患者,而CC联合FISH可以为MDS患者的诊断和预后分层提供重要依据。 Objective To investigate the application of fluorescence in suit hybridization(FISH) and conventional cytogenetic(CC) in myelodysplastic syndrome(MDS). Methods A total of 186 patients with MDS were detected by conventional R-banding and FISH using 6 pair of probes. At the same time,6 sets of combined probes were used for FISH detection,and statistical analysis was used to compare the detection rates of the two methods. Results The detection rate of chromosomal abnormalities was 33. 5% for the 186 patients. The anomaly detection rate of FISH was 41. 9%; 46. 8% patients carried clonal aberrations by a combination of CC and FISH. The rating was performed according to the revised International Prognostic Scoring System(IPSS-R). The positive rate of FISH was also significantly higher than that of CC,and the difference in the extremely high risk group was statistically significant(χ2= 4. 710,P〈0. 05). Among all World Health Organization(WHO) subtypes,more chromosome abnormality were detected by FISH than by CC,especially for RAEB-1,and the difference was statistically significant(χ2= 4. 952,P〈0. 05). Conclusion FISH can improve the detection rate of chromosomal aberrations in MDS,especially for patients with the failure of karyotype analysis and the abnormality of small clones. FISH combined with CCA can be used as an important basis for diagnosis and prognostic stratification.
作者 金速速 陈占国 楼文文 宫剑 余坚 李倩 JIN Su-su;CHEN Zhan-guo;LOU Wen-wen;GONG Jian;YU Jian;LI Qian(Department of Laboratory Medicine,the Second Affiliated Hospital of Wenzhou Medical University,Wenzhou,Zhejiang 325000,China)
出处 《中国卫生检验杂志》 CAS 2018年第19期2359-2361,2365,共4页 Chinese Journal of Health Laboratory Technology
基金 温州市公益性科技计划项目(Y20160161)
关键词 骨髓异常增生综合征 常规染色体核型 荧光原位杂交技术 Myelodysplastic syndrome Conventional cytogenetic Fluorescence in suit hybridization
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