CAJ | 학술논문

目的探讨荧光原位杂交(FISH)技术在骨髓增生异常综合征(MDS)患者骨髓细胞染色体异常的检出情况,并与常规细胞遗传学分析(CCA)结果进行比较.方法对46例MDS患者,进行常规骨髓细胞的CCA;同时采用包含CSF1R/D5S23-D5S721 (5q33)、EGR1/D5S23-D5S721(5q31)、D7S486/CSP7 (7q31)、D7S522/CSP7 (7q31)、D20S108/CSP8(20q 12/CSP8)和X/Y 6组探针的骨髓增生异常综合征检测试剂盒,进行骨髓间期细胞的FISH检测.结果联合应用2种技术共检出27例染色体异常,检出率为58.7％.CCA和FISH均正常者为19例(41.3％).CCA的异常检出率为32.6％ (15/46),FISH的阳性检出率为50％ (23/46),差异具有统计学意义(P =0.028).27例染色体异常者中CCA与FISH均异常者共1 1例(40.8％),CCA异常但FISH正常者4例(8.7％),CCA正常而FISH异常者9例(32.1％).结论 FISH技术快速、敏感性优于CCA,可以检出CCA失败及分裂相较少的样本的染色体异常,而CCA可以发现FISH探针以外的染色体异常,两种方法联合应用能提高异常染色体的检出率,有利于MDS患者的早期诊断.
목적 탐토형광원위잡교(FISH)기술재골수증생이상종합정(MDS)환자골수세포염색체이상적검출정황,병여상규세포유전학분석(CCA)결과진행비교.방법 대46례MDS환자,진행상규골수세포적CCA;동시채용포함CSF1R/D5S23-D5S721 (5q33)、EGR1/D5S23-D5S721(5q31)、D7S486/CSP7 (7q31)、D7S522/CSP7 (7q31)、D20S108/CSP8(20q 12/CSP8)화X/Y 6조탐침적골수증생이상종합정검측시제합,진행골수간기세포적FISH검측.결과 연합응용2충기술공검출27례염색체이상,검출솔위58.7％.CCA화FISH균정상자위19례(41.3％).CCA적이상검출솔위32.6％ (15/46),FISH적양성검출솔위50％ (23/46),차이구유통계학의의(P =0.028).27례염색체이상자중CCA여FISH균이상자공1 1례(40.8％),CCA이상단FISH정상자4례(8.7％),CCA정상이FISH이상자9례(32.1％).결론 FISH기술쾌속、민감성우우CCA,가이검출CCA실패급분렬상교소적양본적염색체이상,이CCA가이발현FISH탐침이외적염색체이상,량충방법연합응용능제고이상염색체적검출솔,유리우MDS환자적조기진단.
Objective To investigate the importance and usefulness of fluorescence in situ hybridization (FISH) in the detection of chromosomal abnormalities in myelodysplastic syndrome (MDS) and to compare the results of FISH and conventional cytogenetic analysis (CCA).Methods The bone marrow samples collected from 46 MDS patients were analyzed by CCA and interphase FISH,which including 6 probes CSF1R/D5S23,D5S721 (5q33),EGR1/D5S23,D5S721 (5q31),D7S486/CSP7 (7q31),D7S522/CSP7 (7q31),D20S108/CSP8 (20q12/CSP8) and X/Y.Results Abnormal chromosome karyotypes were found in 27 of 46 patients (58.7％),by using two methods combined.The rate of positive FISH (50 ％) was statistically significant different to that of positive CCA (32.6％) (P =0.028).Of the 27 patients with abnormal chromosome karyotypes,CCA and FISH analyses were both positive in 11 cases (40.8 ％),sole CCA was positive in 4 cases (8.7 ％),and sole FISH was positive in 9 cases (32.1％).Conclusion The FISH analysis is more sensitive and speedy than CCA.FISH is more useful for detecting chromosomal abnormalities in less divided samples,while CCA is more helpful in finding chromosomal abnormalities outside the probe detection area.Combined use of CCA and FISH can improve the detection rate of early MDS.