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骨髓增生异常综合征:医院医师需要了解什么?

Myelodysplastic syndromes: what do hospitalists need to know?

机构信息

Department of Oncology, The Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins University, Baltimore, Maryland, USA.

出版信息

J Hosp Med. 2013 Jun;8(6):351-7. doi: 10.1002/jhm.2049. Epub 2013 May 11.

Abstract

Myelodysplastic syndromes (MDS) comprise a heterogeneous group of clonal hematopoietic stem cell disorders characterized by dysplasia, ineffective hematopoiesis leading to peripheral blood cytopenias, and a variable risk of leukemic progression. MDS primarily affects the elderly, and although its prevalence is increasing, MDS is frequently overlooked and underdiagnosed. MDS should be suspected in any patient with unexplained cytopenias, and a bone marrow evaluation is ultimately needed to make the diagnosis and exclude other causes of bone marrow failure. The last 15 years have witnessed significant advances in our understanding of the complex pathogenesis, classification and prognostication, and therapeutic approaches to MDS. Several prognostic models facilitate outcome prediction and risk-adapted therapy. The addition of azacitidine, decitabine, and lenalidomide to erythropoiesis-stimulating agents in our armamentarium offered new effective therapeutic options for many patients who are not candidates for intensive interventions. Improved understanding of the genetic, epigenetic, and immunologic mechanisms that operate in MDS will help develop better prognostication tools and rationally design more effective therapies. Hospitalists are likely to encounter both patients with MDS and patients in whom MDS should be suspected. In this review of MDS, we focus on the epidemiology, diagnosis, pathogenesis, classification and prognostic tools, and treatment options.

摘要

骨髓增生异常综合征(MDS)是一组异质性克隆性造血干细胞疾病,其特征为发育异常、无效造血导致外周血细胞减少,以及白血病进展的风险可变。MDS 主要影响老年人,尽管其患病率在增加,但 MDS 常常被忽视和漏诊。任何原因不明的血细胞减少患者都应怀疑 MDS,最终需要骨髓评估来做出诊断并排除骨髓衰竭的其他原因。在过去的 15 年中,我们对 MDS 的复杂发病机制、分类和预后以及治疗方法有了显著的认识。几种预后模型有助于预测结果和进行风险适应治疗。阿扎胞苷、地西他滨和来那度胺的加入为我们的治疗手段提供了新的有效治疗选择,适用于许多不适合强化干预的患者。对 MDS 中起作用的遗传、表观遗传和免疫机制的深入了解将有助于开发更好的预后工具,并合理设计更有效的治疗方法。住院医师可能会遇到 MDS 患者和疑似 MDS 的患者。在这篇 MDS 综述中,我们重点介绍 MDS 的流行病学、诊断、发病机制、分类和预后工具以及治疗选择。

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