RESUMEN
Objective Myelodysplastic spndrome (MDS) patients' chromosome aberrations were detected by CC and FISH method respectively,to establish standard FISH platform of diagnosis of MDS,to compare the differences of FISH and CC in the detection of MDS chromosome aberrations.Methods Chinese MDS patients fulfilled with the Vienna minimum diagnostic criteria were tested by CC and FISH method,and the patients' clinical data was collected at the same time.Results The standard FISH platform of diagnosis of MDS was established successfully,including probe combination of-5/5q-,+8,-7/7q-,20q-,-Y,the success rate was 100 ％.In 83 cases of MDS,chromosome aberrations rate detected by two methods was 42.2 ％,30.1％ of CC method and 33.7 ％ of FISH method,the accordant diagnostic rate was 76.1％.FISH had higher positive rate than CC method (29.6 ％ vs 18.6 ％,P =0.049) in the IPSS intermedian-risk 1 group,but lower positive rate in IPSS intermedian-risk 2 group (62.5 ％ vs 81.2 ％,P =0.036).There were 11 (19.0 ％) cases of clonal chromosome aberrations detected by FISH method but not detected by CC method,in which 10 (90.9 ％) cases were intermedian-risk 1 group (IPSS grouping).Evaluate IPSS by FISH and CC respectively,the accordant rate was 86.7 ％.Evaluate IPSS by CC alone will result in 3 patients (3.6 ％)decline in risk stratification,and evaluate IPSS by FISH alone will result in 8 patients (9.6 ％) decline in risk stratification.There were 35 (42.2 ％) cases of chromosome aberrations detected by the two methods,including 13 (15.7 ％) cases of complex karyotype and 22 (26.5 ％) cases of single abnormal karyotype.The most common chromosomal aberration was +8,a total of 9 (10.8 ％) cases,followed by abnormalities of chromosome 7,a total of 7 (8.4 ％) cases.Conclusion The study has established standard FISH platform of diagnosis of MDS,the method is stable,sensitive and rapid.FISH technology joint CC technology can improve the patients with MDS chromosome aberration detection rate.Compared to CC,FISH technique can improve the detection rate of the intermedian-risk 1 IPSS grouping MDS patients.Because of limited probe,FISH technique can not entirely replace the role of CC method in MDS,but can complement each other.