Application of the variant allele frequency of myeloid-associated gene mutations in myelodysplastic syndrome
10.3760/cma.j.cn121090-20240806-00293
- VernacularTitle:髓系相关基因突变的变异等位基因频率在骨髓增生异常综合征研究中的应用
- Author:
Mingyue SHANG
1
;
Li SU
1
Author Information
1. 首都医科大学宣武医院血液内科，北京 100032
- Publication Type:Journal Article
- From:
Chinese Journal of Hematology
2025;46(4):372-376
- CountryChina
- Language:Chinese
-
Abstract:
Myelodysplastic syndrome (MDS) is a heterogeneous clonal myeloid malignancy with a variable prognosis. Some myeloid-related gene alterations have been found to be associated with the diagnosis and prognosis of MDS. As a result, multiple myeloid-related gene mutations have been added to International Working Group for Prognosis in MDS (IWG-PM) and other MDS prognosis evaluation systems as diagnostic and prognostic indications. Further research using the variable allele frequency (VAF) detection technique demonstrated that myeloid-related genes evolve dynamically during the course of MDS with some regularity. Furthermore, significant relevance have been found between the VAF evolution of particular myeloid-related genes and MDS subtypes, risk classification, and prognosis. This article provides an overview of the application of VAF of myeloid-related gene mutations in MDS research, highlighting the critical role of gene mutation VAF in MDS subtype categorization, risk stratification, and therapy response assessment.
