骨髓增生异常综合征中常见的基因突变及其临床意义
| 作者: |
1张阳,
2刘铭,
1刘红星
1 河北燕达陆道培医院病理和检验医学科，河北 廊坊 065201 2 青岛大学附属医院血液科，山东 青岛 266003 |
| 通讯: |
刘红星
Email: starliu@pku.edu.cn |
| DOI: | 10.3978/j.issn.2095-6959.2017.10.035 |
摘要
骨髓增生异常综合征(myelodysplastic syndrome，MDS)是一组在生物学上和临床上均表现出异质性的干细胞克隆性疾病。由于MDS在诊断、治疗、临床预后和疾病监测中缺乏特异性的标志物，经常为正确诊治带来困扰。随着分子生物学研究的进展，目前已鉴定与MDS发病相关的突变基因超过50种。这些基因突变的组合与MDS的发生、发展、药物治疗反应和预后密切相关，为MDS的诊治提供了重要的依据。
关键词：
骨髓增生异常综合征
基因突变
突变组
精准医疗
Gene mutations and its clinical significance in myelodysplastic syndrome
CorrespondingAuthor: LIU Hongxing Email: starliu@pku.edu.cn
DOI: 10.3978/j.issn.2095-6959.2017.10.035
Abstract
Myelodysplastic syndrome (MDS) is a group of stem cell clonal diseases that are biologically and clinically heterogeneous. Due to lack of specific markers in the diagnosis, treatment, clinical prognosis and disease monitoring of MDS, it often brings confusion for correct diagnosis and treatment. With advances in precision medicine and molecular biology, more than 50 kinds of mutant genes have been reported involved in the pathogenesis of MDS. Combination of these mutations is closely related to the occurrence and development of MDS, treatment response and prognosis, and provides an important basis for the diagnosis and treatment of MDS.
Keywords：
myelodysplastic syndrome
gene mutation
mutaome
precision medicine