Detection of chromosome abnormalities in myelodysplastic syndromes with interval fluorescence in situ hybridization / 中国实验血液学杂志

ABSTRACT

This study was aimed to investigate the value of interval fluorescence in situ hybridization (FISH) in detection of abnormal karyotypes of patients with myelodysplastic syndromes (MDS). Conventional cytogenetics (CC) and interval FISH methods were carried out to analyze the bone marrow cells in 80 cases of MDS and 20 normal people. The results showed that using FISH, 53.8% cases of MDS (43/80) were found with abnormal karyotypes which was higher than 21.3% detected by CC method. There was significant difference between the 2 methods in detecting abnormal karyotypes in MDS (P < 0.05). Among all World Health Organization (WHO) subtypes, more chromosome abnormal were detected by FISH than by CC, especially for refractory anemia (RA) and refractory cytopenia with multilineage dysplasia (RCMD) groups. The detecting rate in patients with intermediate risk of International Prognostic Scoring System (IPSS) also had a statistical difference between FISH and CC methods. It is concluded that the FISH is more sensitive than CC in detection of abnormal karyotypes in MDS and is informative for the cases with karyotype failure or normal karyotype tested by CC. 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.