荧光原位杂交检测骨髓增生异常综合征常见染色体异常的研究

摘要

目的 探讨应用组合探针行荧光原位杂交技术(FISH)检测骨髓增生异常综合征(MDS)的常见染色体异常,并比较常规细胞遗传学分析(CCA)与FISH在MDS检测中的作用.方法 对51例MDS患者和10例健康对照者的骨髓细胞进行CCA,并用组合探针行FISH检测,比较CCA和FISH检测5号、7号、8号、20号、Y染色体异常的情况.结果 行CCA发现,43.14％(22/51)有染色体异常,其中涉及上述5条染色体异常的有33.33％(17/51) [-5/5q-占11.76％(6/51),-7/7q-占11.76％(6/51),+8占11.76％(6/51),20q-占9.80％(5/51),-Y占3.92％(2/51)；其中部分异常合并存在]；其他染色体异常9.80％(5/51).CCA异常中,数目异常4例,结构异常8例,数目并结构异常1例,复杂异常9例.FISH组合探针检出阳性率为43.14％(22/51),其中-5/5q-占11.76％(6/51),-7/7q-占15.69％(8/51),+8占13.73％(7/51),20q-占13.73％(7/51),-y占3.92％(2/51).结论 CCA与FISH结合能提高MDS染色体异常的检出率,FISH能发现和纠正CCA漏检的异常.%Objective To examine the use of combination probe fluorescence in situ hybridization (FISH) in detecting common chromosome abnormalities in myelodysplastic syndrome (MDS),and compare conventional cytogenetic analysis (CCA) with FISH in the role of MDS detection.Methods The chromosome abnormalities of No.5,No.7,No.8,No.20 and Y chromosome in 51 cases of MDS and 10 cases of normal controls were compared by CCA and FISH.Results 51 cases of MDS patients were found by CCA that 43.14 ％ (22/51) had chromosome anomaly,showing 33.33 ％ (17/51) abnormalities in above five chromosomes [-5/5q-abnormal 11.76 ％ (6/51),-7/7q-abnormal 11.76 ％ (6/51),+8 anomaly 11.76 ％ (6/51),and q-abnormal 9.80 ％ (5/51),-Y anomaly 3.92 ％ (2/51),respectively].Abnormalities in other chromosomes were 9.80 ％ (5/51).4 cases had abnormal numbers,8 cases had abnormal structures,1 case had abnormalities in both numbers and structures,and 9 cases were diagnosed with complex anomaly.FISH with probe combination detected 22 positive cases (43.1％),among which were-5/5q-abnormal 11.76 ％(6/51),-7/7q-abnormal 15.69 ％ (8/51),+8 anomaly 13.73 ％ (7/51),q-abnormal 13.73 ％ (7/51),and-Y anomaly 3.92 ％ (2/51),respectively.Conclusion Combination of CCA and FISH can improve the detection rate of MDS chromosome anomaly.FISH can identify and correct the false negatives by CCA.