122例骨髓增生异常综合征患者的染色体核型分析及荧光原位杂交检测

Karyotype analysis and fluorescence in situ hybridization detection of 122 patients with myelodysplastic syndrome

目的探讨染色体核型分析与荧光原位杂交（fluorescence in situ hybridization, FISH） 检测对骨髓增生异常综合征（myelodysplastic syndrome, MDS）的诊断及预后评估的价值。方法应用常规R显带技术对122例初治MDS患者进行染色体核型分析，同时应用GLPCSFIR／D5S23，D5S721探针、GLPEGR1／D5S23、D5S721探针、GLPD7S486／CSP7探针、GLPD7S522／CSP7探针、GLPD20S108探针、CSP8探针及CSPX／Y探针对122例MDS患者进行FISH检测。结果122例MDS患者染色体核型异常检出率为54．9％。核型异常涉及数目异常和结构异常，其中以涉及3种及3种以上的复杂染色体异常最多见，占16．4％；其次为＋8，占14．8％；-7／7q-染色体异常占7．4％；-5／5q-染色体异常占5．7％；20q-染色体异常占2．5％；-在男性患者中占5．0％。2例RAEB-Ⅱ患者染色体核型检出t（8：21），应诊断为急性髓系白血病。FISH检测结果显示：54例MDS患者FISH检测结果阳性，阳性检出率为44．3％，其中CSP8扩增阳性率最高，占30．3％；其次为GLPD7S486／CSP7和GLPD7S522／CSP7基因缺失，阳性率占12．3％；GLPCSF1R／D5S23，D5S721和GLPEGR1／D5S23，D5S721基因缺失阳性率为9．8％；GLPD20S108基因缺失阳性率为7．4％；csPx／Y基因缺失在男性患者中占5％。结论对MDS患者进行染色体R显带分析可发现54．9％的异常，因此该技术依然是MDs的细胞遗传学检查的基础；FISH检测可以提高部分异常的检出率，但尚不能针对每条染色体进行检测，具有一定的局限性；染色体核型分析联合FISH技术可完善MDS细胞遗传学及分子遗传学检查，成为该病诊断及预后评估不可或缺的检测技术。

Objective To assess the value of karyotype analysis and fluorescence in situ hybridization （FISH） assay for the diagnosis of myelodysplastic syndrome （MDS）. Methods The karyotypes of 122 initially treated MDS patients were analyzed with conventional R-banding and FISH using probes including GLP CSF1R/D5S23, D5S721, GLP EGR1/D5S23, D5S721, GLP D7S486/CSP7, GLP D7S522/CSPT, GLP D20S108, CSP8 and CSP X/Y. Results The detection rate of chromosomal abnormalities was 54.9% for the 122 patients. Among these, those involving 3 or more chromosomes are most common （16.4%）, followed by ＋8 （14.8%）, -7/7q-（7.4%）,-5/5q-（5.7%）, 20q- （2.5%）, and --Y in male patients （5.0%）. Two MDS-RAEB-Ⅱ patients detected with t（8： 21） should be diagnosed with acute myelocytic leukemia. FISH analysis showed that 54 patients were positive （44.3%）. Among these, 30.3% had CSP8 amplification, followed by GLP D7S486/CSP7 and GLP DTS522/CSP7 deletion （12.3%）, GLP CSFIR/ D5S23,D5S721 and GLP EGR1/D5S23,D5S721 deletion （9.8%）, GLP D20S108 deletion （7. 4%）, and CSPX/Y deletion （5 %）. Conclusion With a detection rate of 54.9%, R-banding still constitutes the basic examination for MDS. As detection of interstitial chromosomal abnormalities in MDS can be greatly enhanced by FISH, combined karyotype analysis and FISH can improve the diagnosis of MDS and facilitate assessment of its prognosis.