骨髓增生异常综合征(MDS)是一类起源于造血干细胞的异质性骨髓疾病,其临床表现和预后各异。近年来,随着基因组学和高通量测序技术的飞速发展,对MDS的病理生理机制、分子遗传学特征及免疫微环境的认识日益深入,为疾病的早期诊断、风险分层和个体化治疗提供了新的视角。本文综述了MDS的发病机制、临床诊断、风险评估及当前主要的治疗策略,包括支持治疗、低剂量化疗、靶向药物、免疫治疗以及造血干细胞移植等。与此同时,我们也讨论了MDS研究中面临的挑战,如病情进展机制尚不明确、耐药问题及治疗反应的个体差异等。未来,通过多学科协作和精准医疗策略的不断完善,有望进一步改善MDS患者的生存率和生活质量。Myelodysplastic Syndromes (MDS) are a group of heterogeneous bone marrow disorders originating from hematopoietic stem cells, with diverse clinical manifestations and prognoses. In recent years, with the rapid development of genomics and high-throughput sequencing technologies, there has been an increasing understanding of the pathophysiological mechanisms, molecular genetic characteristics, and immune microenvironment of MDS. This progress has provided new perspectives for early diagnosis, risk stratification, and personalized treatment of the disease. This review summarizes the pathogenesis, clinical diagnosis, risk assessment, and current major treatment strategies for MDS, including supportive therapy, low-dose chemotherapy, targeted drugs, immunotherapy, and hematopoietic stem cell transplantation. Meanwhile, we also discuss the challenges in MDS research, such as the unclear mechanisms of disease progression, issues of drug resistance, and individual differences in treatment response. In the future, through continued multidisciplinary collaboration and the improvement of precision medicine strategies, the survival rate and quality of life for MDS patients are expected to improve further.
