Ru Xiao, Li Qing, Fang Xiao-Sheng, Li Ying, Wang Xin, Zhang Ling-Yan
Department of Hematology, Provincial Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2013 Feb;21(1):116-20. doi: 10.7534/j.issn.1009-2137.2013.01.024.
This study was aimed to investigate the value of interval fluorescence in situ hybridization (FISH) in detection of abnormal karyotypes of patients with myelodysplastic syndromes (MDS). Conventional cytogenetics (CC) and interval FISH methods were carried out to analyze the bone marrow cells in 80 cases of MDS and 20 normal people. The results showed that using FISH, 53.8% cases of MDS (43/80) were found with abnormal karyotypes which was higher than 21.3% detected by CC method. There was significant difference between the 2 methods in detecting abnormal karyotypes in MDS (P < 0.05). Among all World Health Organization (WHO) subtypes, more chromosome abnormal were detected by FISH than by CC, especially for refractory anemia (RA) and refractory cytopenia with multilineage dysplasia (RCMD) groups. The detecting rate in patients with intermediate risk of International Prognostic Scoring System (IPSS) also had a statistical difference between FISH and CC methods. It is concluded that the FISH is more sensitive than CC in detection of abnormal karyotypes in MDS and is informative for the cases with karyotype failure or normal karyotype tested by CC. It is mainly embodied in the intermediate risk cases of IPSS. In addition, patients with RA and RCMD may benefit more from FISH for diagnosis compared with other WHO subtypes.
本研究旨在探讨间期荧光原位杂交(FISH)在检测骨髓增生异常综合征(MDS)患者异常核型中的价值。采用传统细胞遗传学(CC)和间期FISH方法对80例MDS患者及20例正常人的骨髓细胞进行分析。结果显示,采用FISH检测,53.8%(43/80)的MDS患者存在异常核型,高于CC法检测的21.3%。两种方法在检测MDS异常核型方面存在显著差异(P<0.05)。在世界卫生组织(WHO)所有亚型中,FISH检测到的染色体异常比CC法更多,尤其是难治性贫血(RA)和伴有多系发育异常的难治性血细胞减少症(RCMD)组。国际预后评分系统(IPSS)中危患者的检测率在FISH和CC方法之间也存在统计学差异。结论是,FISH在检测MDS异常核型方面比CC更敏感,对于CC检测核型失败或核型正常的病例具有参考价值。主要体现在IPSS中危病例中。此外,与其他WHO亚型相比,RA和RCMD患者可能从FISH诊断中获益更多。