J Cancer 2020; 11(2):508-519. doi:10.7150/jca.30363

Research Paper

Evaluation of different scoring systems and gene mutations for the prognosis of myelodysplastic syndrome (MDS) in Chinese population

Meng-yi Du1, Min Xu1, Jun Deng1, Lin Liu1, Tao Guo1, Ling-hui Xia1, Yu Hu1,2*✉, Heng Mei1,2*✉

1. Institute of Hematology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
2. Collaborative Innovation Center of Hematology, Huazhong University of Science and Technology, Wuhan, Hubei 430022, PR China.
* Heng Mei and Yu Hu contributed equally to this study.

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Citation:
Du My, Xu M, Deng J, Liu L, Guo T, Xia Lh, Hu Y, Mei H. Evaluation of different scoring systems and gene mutations for the prognosis of myelodysplastic syndrome (MDS) in Chinese population. J Cancer 2020; 11(2):508-519. doi:10.7150/jca.30363. Available from http://www.jcancer.org/v11p0508.htm

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Abstract

MDS is a heterogeneous disease with diverse clinical manifestations, and an effective prognostic evaluation tool for MDS patients is needed. To achieve more accurate prognosis assessment for Chinese MDS patients, here we examined several scoring systems and explored the implications of gene mutations. The prognostic conditions were stratified against three different score systems (International Prognostic Scoring System (IPSS), WHO Prognostic Scoring System (WPSS), and Revised International Prognostic Scoring System (IPSS-R)) were retrospectively applied to 110 de novo MDS patients in study cohort in our hospital and the prognostic conditions were stratified respectively. IPSS-R out-performed the others, since it had less overlaps in survival curve, especially in the relatively low-risk group. Furthermore, genetic mutations were identified in 84 out of 110 patients and their association with overall survival (OS) were determined. Among them, sixty-three percent patients had at least one-point mutation, including thirty-five patients with normal karyotypes. The presence of TP53 mutations, but not TET2, DNMT3A or ASXL1 mutations was significantly correlated with shorter OS. A new model incorporating IPSS-R and TP53 mutations into survival analysis was proposed, and the prognostic value of this model was validated to be predominant in a 190-primary MDS patient independent cohort. Our data suggested that IPSS-R was more suitable for Chinese population. Attentions should be paid to the unfavourable mutations that might exert impact on the survival, especially in patients with relatively low risk.

Keywords: myelodysplastic syndrome, risk assessment, prognosis, gene mutations