Detecting chromosomal aberrations in myelodysplastic syndrome with fluorescence in situ hybridization and conventional cytogenetic analysis / 中南大学学报(医学版)

ABSTRACT

OBJECTIVE@#To detect chromosomal abnormalities in myelodysplastic syndrome (MDS) patients by fluorescence in situ hybridization (FISH) and conventional cytogenetic analysis (CCA).@*METHODS@#FISH and CCA were performed in 100 patients who were diagnosed with MDS by conventional detection of bone marrow smear and bone marrow biopsy, and were followed up.@*RESULTS@#Forty-eight (48%) patients showed chromosomal abnormalities. The positive rate of -5/5q-, 20q-, +8, -7/7q-, and -Y was 16%, 15%, 12%, 11%, and 5%, respectively, and that of CCA was 11%. The positive rate of molecular genetics abnormalities detected by FISH was obviously higher than that of CCA (P<0.01) and the combination of FISH and CCA increased the detection rate to 49%. The follow-up showed that the prognosis of patients with normal FISH results was significantly better than the abnormal ones. A correlation between complex karyotypes and poor prognosis was observed. Abnormality of -7/7q- was found closely correlated with the higher risk of acute leukemia and death.@*CONCLUSION@#Chromosomal abnormalities have been found in 49 MDS patients. Common chromosomal abnormalities in MDS patients include -5/5q-, 20q-, +8 and -7/7q-. FISH combined with CCA can improve the detection rate of chromosomal aberrations in MDS. FISH is more sensitive than CCA for detection and can be used as an important basis for prognostic assessment for MDS.