Detection of common chromosome anomaly in myelodysplastic syndrome with fluorescence in situ hybridization / 白血病·淋巴瘤

ABSTRACT

Objective To examine the use of combination probe fluorescence in situ hybridization (FISH) in detecting common chromosome abnormalities in myelodysplastic syndrome (MDS),and compare conventional cytogenetic analysis (CCA) with FISH in the role of MDS detection.Methods The chromosome abnormalities of No.5,No.7,No.8,No.20 and Y chromosome in 51 cases of MDS and 10 cases of normal controls were compared by CCA and FISH.Results 51 cases of MDS patients were found by CCA that 43.14 ％ (22/51) had chromosome anomaly,showing 33.33 ％ (17/51) abnormalities in above five chromosomes [-5/5q-abnormal 11.76 ％ (6/51),-7/7q-abnormal 11.76 ％ (6/51),+8 anomaly 11.76 ％ (6/51),and q-abnormal 9.80 ％ (5/51),-Y anomaly 3.92 ％ (2/51),respectively].Abnormalities in other chromosomes were 9.80 ％ (5/51).4 cases had abnormal numbers,8 cases had abnormal structures,1 case had abnormalities in both numbers and structures,and 9 cases were diagnosed with complex anomaly.FISH with probe combination detected 22 positive cases (43.1％),among which were-5/5q-abnormal 11.76 ％(6/51),-7/7q-abnormal 15.69 ％ (8/51),+8 anomaly 13.73 ％ (7/51),q-abnormal 13.73 ％ (7/51),and-Y anomaly 3.92 ％ (2/51),respectively.Conclusion Combination of CCA and FISH can improve the detection rate of MDS chromosome anomaly.FISH can identify and correct the false negatives by CCA.