分子生物学在骨髓增生异常综合征预后判断中的应用进展

Application of molecular biology in prognosis evaluation of myelodysplastic syndromes

骨髓增生异常综合征（MDS）是一组异质性的髓系肿瘤，预后受多种因素影响，个体差异很大。目前MDS病理生理机制并不明确，近期一些研究表明MDS患者有广泛的基因异常，随着新的基因组测序技术的发展，80％左右的MDS患者可以发现基因异常。这些分子生物学异常的发现有指导药物靶向治疗及疾病监测的前景，为异质性血液恶性肿瘤个体化管理治疗带来希望。本文对影响MDS预后因素，尤其针对近年来MDS分子生物学研究的相关文献进行综述。

Myelodysplastic syndromes are a group of heterogeneous myeloid tumors and the progno- sis is affected by a variety of factors. The pathophysiology of myelodysplastic syndromes （MDS） is unclear. Recent studies have shown that MDS patients have extensive genetic abnormalities. With the development of new genome sequencing technology, abnormal genes can be found in about 80% of MDS patients. These molecular biological abnormalities have the prospect of guiding targeted therapy and disease surveillance, and can give a hope for the individualized management of heterogeneous hematological malignancies. Here, the prognostic factors of MDS, especially for MDS molecular biology in recent years have been reviewed.