Analysis of clinical and molecular features of MDS patients with complex karyotype in China

作者：Ren, Yanling; Mei, Chen; Ye, Li; Luo, Yingwan; Zhou, Xinping; Yang, Haiyang; Lin, Peipei; Xu, Weilai; Ma, Liya; Jin, Jie; Tong, Hongyan^*

来源：Blood Cells, Molecules, and Diseases, 2019, 75: 13-19.

DOI：10.1016/j.bcmd.2018.11.006

• Myelodysplastic syndrome (MDS)
• Complex karyotype
• TP53 mutation

We retrospectively analyzed 101 primary MDS patients with complex karyotype during January 2010 and April 2017.The median overall survival (OS) time was 13 (95% CI 9.98-16.02) months, and there was no significant difference in OS for different treatment. Chromosome 5/7 involvement was common (78.22%, 79/101) and associated with shorter OS (12 months vs. 28 months, P < 0.01) Monosomal karyotype (MK) is overlapped with CK in 79 patients, but was not statistically associated with shorter OS. While in 59 cases with genes sequenced, 57 (96.61%) patients were found to have at least one mutation of known significance, and TP53 was the most frequent (74.58%, 44/59), the median OS of patients with TP53 mutation was shorter than those without (10 vs. 27 months, P < 0.01). Multivariate analysis demonstrated that only TP53 mutation was the strongest independent prognostic factor for OS. Moreover, high variant allele frequency (VAF) of TP53 mutation (median VAF was 70.00%) was seen and associated with adverse survival (9 months vs. 13 months, p = 0.04). In conclusion, MDS patients with CK implied an unfavorable outcome regardless of any treatment, TP53 mutation occurs at a high frequency and has a higher VAF, both were associated with worse survival.

• 出版日期2019-3
• 单位浙江大学