Detection of chromosomal aberrations in myelodysplastic syndrome by using fluorescence in situ hybridization

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. Key words: Myelodysplastic syndrome ;  Fluorescence in situ hybridization ;  Conventional cytogenetic analysis;  Chromosomes abnormity