Detection Of Chromosome Abnormalities In Myelodysplastic Syndromes With Interval Fluorescence In Situ Hybridization

OBJECTIVE:1. The purpose of this study was to investigate the value of the interphase fluorescence in situ hybridization (FISH) in detecting abnormal karyotypes of patients with myelodysplastic syndromes (MDS).2. To compare FISH with conventional cytogenetic method in detecting MDS on chromosome abnormality and to evaluate the importance of FISH in the diagnosis of MDS.3. To compare the difference of IPSS score and WHO criteria in MDS patients according to conventional cytogenetics and FISH results respectively.METHODS:80cases of MDS patients were selected between March2011to June2012from the department of hematology, provincial hospital affiliated to shandong university, including39cases of refractory anemia (RA),1case with refractory anemia of ringed sideroblasts(RAS),27cases with refractory Cytopenia with multilineage dysplasia (RCMD),5cases of refractory anemia with excess of blasts-1(RAEB-1),4cases of refractory anemia with excess of blasts-2(RAEB-2),3cases of MDS-U and1case of MDS with only5q-.20samples were seleted as normal controls.80patients were treated by G banding analysis, then80patients and20controls were detected by FISH with-5/5q-,+8,-7/7q-,20q-,-Y probe combination. The positive rates of chromosomal abnormality detected by the two methods were compared. Further more, the difference of positive rates between each WHO subtype and IPSS score levels were also compared.RESULTS:The results showed that using FISH53.8%of80cases of MDS were found with abnormal karyotypes which were higher than21.3%which was detected by conventional cytogenetics method. There was significant difference between the two methods in detecting abnormal karyotypes in MDS(P<0.05). Among each World Health Organization (WHO) subtype, more chromosome anomaly were detected by FISH than by conventional cytogenetic, especially for refractory anemia (RA) which showed41.0%positive rates by FISH while15.4%positive rates by conventional cytogenetics, and refractory cytopenia with multilineage dysplasia (RCMD) groups which shows55.6%positive rates by FISH while11.1%positive rates by conventional cytogenetics. The detecting rate in patients with intermediate risk group of International Prognostic Scoring System (IPSS) also had a statistical difference between FISH and conventional cytogenetics.CONCLUSIONS:It is concluded that the FISH is more sensitive than conventional cytogenetic in the detection of abnormal karyotypes in MDS and is especially informative for the cases with failed karyotype detecting results or normal karyotype tested by conventional cytogenetics. It is mainly embodied in the intermediate risk cases of IPSS. In addition, patients with RA and RCMD may benefit more from FISH for diagnosis compared with other WHO subtypes.