Advances in molecular genetic research on Myelodysplastic syndrome.
10.3760/cma.j.cn511374-20250211-00070
- Author:
Tao WU
1
;
Wenhui LIU
;
Yang LIU
;
Qiuyue WU
Author Information
1. Department of Hematology, The 940th Hospital of Joint Logistics Support Force of PLA, Lanzhou, Gansu 730050, China. wutaozhen@yeah.net.
- Publication Type:English Abstract
- MeSH:
Humans;
Myelodysplastic Syndromes/diagnosis*;
Mutation;
DNA Methylation;
RNA Splicing;
High-Throughput Nucleotide Sequencing
- From:
Chinese Journal of Medical Genetics
2026;43(4):307-311
- CountryChina
- Language:Chinese
-
Abstract:
Myelodysplastic syndrome (MDS) is a chronic hematologic disorder characterized by ineffective hematopoiesis, dysplasia of one or more cell lines with or without definite genetic changes. Its diagnosis requires a comprehensive analysis combining morphology, immunology, cytogenetics, and molecular biology findings. In recent years, the development of second-generation sequencing (NGS) has provided great assistance in exploring the molecular pathogenesis of hematological malignancies and guidance for clinical practice. Mutations of a series of gene involved in RNA splicing, DNA methylation, transcriptional regulation, signal transduction, chromatin modification and cohesin complex have been identified as important mechanisms for the development of MDS, among which some mutations have been found to play important roles in the diagnosis, treatment, and prognosis of MDS. This article has provided a comprehensive review the the common molecular genetic abnormalities involved in MDS.
