Research progress on gene mutations in myelodysplastic syndromes
10.12354/j.issn.1000-8179.2025.20241688
- VernacularTitle:骨髓增生异常综合征基因突变的研究进展
- Author:
Gong WENJING
1
;
Zhu FENG
;
Li JIE
Author Information
1. 山东第一医科大学研究生学院(济南市 250117);山东第一医科大学第二附属医院血液内科
- Publication Type:Journal Article
- Keywords:
myelodysplastic syndromes(MDS);
gene mutation;
prognosis;
targeted therapy
- From:
Chinese Journal of Clinical Oncology
2025;52(9):470-473
- CountryChina
- Language:Chinese
-
Abstract:
In recent years,the clinical implementation of next-generation sequencing(NGS)has demonstrated the critical driving role of spe-cific myeloid-related gene mutations in the clonal evolution of myelodysplastic syndrome(MDS).These molecular genetic abnormalities not only correlate significantly with disease prognosis but also provide actionable molecular targets for precision medicine-era therapies.In cur-rent clinical practice,the Revised International Prognostic Scoring System(IPSS-R)remains the primary tool for guiding risk-adapted treat-ments in patients with MDS.However,real-world outcomes in certain patients still deviate from IPSS-R predictions,highlighting the need to integrate molecular genetic features into traditional prognostic models for enhanced accuracy.This article systematically reviews recent ad-vances in understanding MDS genetic mutations,focusing on their pivotal roles in driving malignant clonal evolution,optimizing risk stratific-ation,and developing personalized treatments.
