应用间期荧光原位杂交检测骨髓增生异常综合征8号和20号染色体异常

目的筛选出经济、实用的探针组合提高细胞分子遗传学在MDS诊断中的应用；探讨常规细胞遗传学分析（CCA）及荧光原位杂交（FISH）两种技术在MDS检测中的灵敏度和特异性；探讨MDS患者的8、20号染色体改变及与预后的关系。方法采用常规细胞遗传学法和FISH法分析48例患者的骨髓细胞的染色体异常情况。用SPSS12．0统计软件，对患者的遗传学异常与疾病转归、预后之间关系进行相关性检验。结果检出染色体异常26例（54．2％），其中复杂异常5例（10．4％），单一＋8异常13例（27．1％），20q-异常3例（6．3％）。平均随访12个月，38例存活，10例死亡，5例转变为急性白血病。复杂核型与MDS的急性白血病转化及死亡密切相关。结论击者CCA结合FISH能提高MDS的诊断率；探针组合简便、经济，能够检出MDS中＋8，20q-核型异常，有较强的临床实用性；结合细胞分子遗传学改变能较准确判断MDS患者的预后。

Detecting the abnormity of chromosomes 8 and 20 aberrations in myelodysplastic syndromes by using fluorescence in situ hybridization

Objective To screen an economic and useful probe group in order to improve the clinical application for molecular cytogenetics, To explore the sensitivity and specificity of cytogenetic analysis（CCA） and fluorescence in situ hybridization （FISH） technique in myelodysplastic syndromes （MDS）. To analyze the relationship between chromosome abnormalities and MDS prognosis in MDS patients. Methods The bone marrow ceils of 48 cases were analyzed with CCA and FISH. SPSS 12.0 software was used to analyze the correlation among the genetic abnormalities, the disease conversion and the prognosis in 48 patients with MDS. Results By using CCA and FISH techniques, karyotype abnormalities were found in 26 （54.2%）of 48 cases, among which 5（10.4%） were complex karyotypes, 13（27.1%）＋8, 3（6.3%）20q-. After 12-month followedup, 38 cases survived, 10 cases died, 5 cases developed into acute eukemia. Complex karyotypes were closely associated with the risk of developing AML and the death rate. The abnormalities of＋8 and 20q- had no correlation with the death. Conclusion Combination of CCA and FISH can improve the diagnosis rate of MDS. The probe group we screened is simple and economic, which can detect the ＋8,20q- abnormal karyotypes, and it can be useful for clinlcal application. Together with cytogenetic abnormality we may predict the patients＇ prognosis more accurately.