荧光原位杂交联合染色体核型分析在骨髓增生异常综合征诊断中的应用  

Application of fluorescent in situ hybridization combined with cytogenetic analysis in diagnosis of myelodysplastic syndromes

作　　者：肖雅娟[1] 黄园鹭[1] 许娜[1] 曹睿[1] 廖立斌[1] 林榕[1] 周璇[1] 高冠论[1] 宋兰林[2] 刘晓力[1] 

机构地区：[1]南方医科大学南方医院血液科,广东广州510515 [2]南方医科大学南方医院妇产科,广东广州510515

出　　处：《热带医学杂志》2014年第5期639-642,650,共5页Journal of Tropical Medicine

基　　金：广州市科技攻关重点引导项目(2006Z3-E0401)

摘　　要：目的了解细胞遗传学检查在骨髓增生异常综合征(MDS)诊断中荧光原位杂交技术(FISH)的应用指征,并探索其可完善的方向。方法随机抽取104例确诊为MDS的患者的骨髓标本进行染色体核型分析和荧光原位杂交,并收集患者临床资料。根据WHO及IPSS对病例进行分组。结果 104例患者常见的染色体异常依照出现的频率由大至小依次是+8,-7/7q-,-5/5q-,t(1)/1q-,-20/20q-,-13/13q-,-17,Y。细胞24 h培养后分裂相不足共14例。分裂相不足病例在IPSS分组中差异无统计学意义(P>0.05)。FISH检查阳性结果:-5/5q-11例,-7/7q-11例,+8 12例,-20/20q-6例,-Y 2例。FISH结果与染色体核型分析结果不符的共4例。结论 MDS的染色体异常异质性高,使得针对特定染色体改变的FISH检查较核型分析阳性率低。FISH适用于核型分析分裂相不足的病例,分裂相足够尤其是复杂核型,患者做FISH检查的意义较小。Objective To understand the clinical indicator for fluorescent in hybridization testing （FISH） in the field of eytogenetic testing in myelodysplastic syndromes and explore how to improve its potential use. Methods 104 patients with myelodysplastic syndromes were enrolled and their bone marrow samples were tested by both FISH and conventional cytogenetic analysis. Based on their clinical data, the patients were classified by WHO classification and IPSS. Results The Common chromosome aberrations in 104 patients were observed by karyotyping as ＋8, -7/7q-, -5/5q-, t（ 1 ）/1q-, -20/20q-, -13/13q-, -17 and -Y in order of decreasing frequency. 14 cases failed in achieving enough metaphases after 24-hour cultivation. FISH detected 11 cases with -5/5q- , 11 cases with -7/7q, 12 cases with ＋8, 6 cases with -20/20q- , 2 cases with -Y. 4 cases had contradicted FISH and karyotyping results. Conclusion The miss rate of FISH test is relatively high in MDS in the consequence of the heterogeneity of the karyotypie abnormality. Patients without enough metaphases preparations can benefit more from FISH testing than those with enough metaphases preparations especially with complex karyotype.

关 键 词：骨髓增生异常综合征 荧光原位杂交 染色体核型分析 细胞遗传学 

分 类 号：R446.11[医药卫生—诊断学]