Study on karyotype of 306 cases of myelodysplastic syndrome / 中国实验血液学杂志

ABSTRACT

The purpose of this study was to explore the significance of abnormal karyotype in diagnosis and prognosis estimation of myelodysplastic syndrome (MDS). Chromosome analysis were performed in 306 cases of MDS using the short-term culture of bone marrow cell and G-banding technique, and in partial cases FISH technique was used for this analysis. 93 out of 306 cases were followed up. The results showed that 144 cases (47.1%) had clonal chromosome aberrations. The most common chromosomal aberrations included +8, translocation, complex or high complex karyotype, -7/7q-, 20q-/-20, trisomy 1 or partial trisomy 1, +11/+11q-, -9/9q-, +9/9q+, -Y, dup(1q), +21. The rate of abnormal karyotype in refractory anemia with erythroblasts (RAEB) and refractory anemia with erythroblasts-transformation (RAEBT) were much higher than in refractory anemia (RA) and refractory anemia with sideroblasts (RAS) (P < 0.05). The rate of abnormal karyotype among those cases with mutagen contact history were higher than those in cases without mutagen contact history. The patients with abnormal karyotype had a mean survival time much shorter than patients with normal karyotype (P < 0.005) and had a higher risk transforming into acute leukemia (P < 0.05). The worst outcome was observed in those patients with a complex or high complex karyotype, -7/7q- and trisomy 11. In conclusion, MDS is highly heterogeneous disorders and karyotype analysis is helpful for its diagnosis, treatment selection and prognosis estimation.