Division of Hematology and Oncology, University of California at San Diego Moores Cancer Center, La Jolla, CA; and.
Division of Hematological Malignancies, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Blood. 2014 Oct 30;124(18):2793-803. doi: 10.1182/blood-2014-04-522136. Epub 2014 Sep 18.
Once thought to be rare disorders, the myelodysplastic syndromes (MDS) are now recognized as among the most common hematological neoplasms, probably affecting >30 000 patients per year in the United States. US regulatory approval of azacitidine, decitabine, and lenalidomide between 2004 and 2006 seemed to herald a new era in the development of disease-modifying therapies for MDS, but there have been no further drug approvals for MDS indications in the United States in the last 8 years. The available drugs are not curative, and few of the compounds that are currently in development are likely to be approved in the near future. As a result, MDS diagnoses continue to place a heavy burden on both patients and health care systems. Incomplete understanding of disease pathology, the inherent biological complexity of MDS, and the presence of comorbid conditions and poor performance status in the typical older patient with MDS have been major impediments to development of effective novel therapies. Here we discuss new insights from genomic discoveries that are illuminating MDS pathogenesis, increasing diagnostic accuracy, and refining prognostic assessment, and which will one day contribute to more effective treatments and improved patient outcomes.
曾被认为是罕见疾病的骨髓增生异常综合征（MDS），现在被认为是最常见的血液系统肿瘤之一，在美国，每年可能影响超过 30000 名患者。2004 年至 2006 年间，美国监管机构批准了阿扎胞苷、地西他滨和来那度胺，这似乎预示着 MDS 疾病修饰治疗的新时代即将到来，但在过去的 8 年中，美国没有再批准任何用于 MDS 适应证的药物。现有的药物不能治愈疾病，目前正在开发的少数化合物在不久的将来也不太可能获得批准。因此，MDS 的诊断继续给患者和医疗保健系统带来沉重的负担。对疾病病理的不完全了解、MDS 的固有生物学复杂性，以及典型老年 MDS 患者合并疾病和较差的身体状况，是开发有效新型治疗方法的主要障碍。在这里，我们讨论了从基因组发现中获得的新见解，这些发现阐明了 MDS 的发病机制，提高了诊断的准确性，改进了预后评估，最终将有助于提供更有效的治疗方法并改善患者的预后。
