间期荧光原位杂交技术检测骨髓增生异常综合征患者的染色体异常

本研究探讨间期荧光原位杂交（FISH）技术在检测骨髓增生异常综合症（MDS）患者染色体异常中的价值。采用常规细胞遗传学（CC）和间期FISH技术对80例MDS患者和20例正常对照者的骨髓细胞进行分析，比较两种方法检测MDS患者异常克隆的阳性率。结果表明：80例MDS患者经FISH技术检出染色体异常43倒（53．8％），明显高于CC的异常核型检出率17例（21．3％），两者比较有统计学意义（P〈0．05）；在世界卫生组织（WHO）各亚型中，FISH异常检出率高于CC，其中难治性贫血（RA）和难治性贫血伴多系病态造血（RCMD）两组患者阳性率结果差异具有显著性；在国际预后积分系统（IPSS）各评分等级中，FISH阳性率也明显高于CC，其中中危组患者差异具有统计学意义。结论：FISH技术敏感性优于CC，可以检测出CC分析失败及正常的染色体异常克隆，提高异常染色体的检出率，这一点主要体现在IPSS中的中危组患者；在WHO各亚型中，RA和RCMD组患者从FISH技术中获益较大。

Detection of Chromosome Abnormalities in Myelodysplastic Syndromes with Interval Fluorescence in Situ Hybridization

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 carded 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.