Cytogenetic analysis in patients with polycythemia vera / 中国实验血液学杂志

ABSTRACT

In order to evaluate the incidence of chromosomal abnormalities in patients with polycythemia vera (PV) accurately and to investigate the value of fluorescence in situ hybridization (FISH) technique in the detection of trisomies 8 and 9, conventional cytogenetics (CC) technique was used to detect karyotype and interphase FISH was used to detect trisomies 8 and 9 in 50 newly diagnosed PV and 8 normal individuals. The results showed that out of 50 cases, the 3 cases had chromosome karyotype abnormality, including trisomy 8, deletion of chromosome Y and inversion of chromosome 11 by CC technique. FISH method detected two cases of trisomy 8, including one case confirmed by CC technique, and one case of trisomy 9 neglected by CC technique. It is concluded that the incidence of chromosomal abnormalities in patients with PV is rare, and the incidence of trisomy 8 and trisomy 9 found in this study are relatively lower than that have been reported which may be related to the limited number of samples. Interphase FISH, as an important complement to CC, is a useful method for the detection of trisomies 8 and 9.