Division of Hematology, Brigham and Women's Hospital, Boston, MA, USA.
Clin Cancer Res. 2013 Apr 1;19(7):1637-43. doi: 10.1158/1078-0432.CCR-12-1251. Epub 2013 Jan 17.
An increasingly complete compendium of recurrently mutated genes in myelodysplastic syndromes (MDS) has been defined, and the application of massively parallel sequencing to identify mutations in clinical practice now promises to improve the care of patients with this disease. More than 25 recurrent MDS-associated somatic mutations have been identified, involving biologic pathways as diverse as chromatin remodeling and pre-mRNA splicing. Several of these mutations have been shown to have prognostic implications that are independent of existing risk stratification systems based on clinical and pathologic parameters. Application of these recent discoveries to diagnosis, prognosis, risk stratification, and treatment selection for patients with MDS has the potential to improve patient outcomes. Here, we review recent advances in MDS and discuss potential applications of these discoveries to clinical practice.
在骨髓增生异常综合征（MDS）中，越来越多的反复突变基因被定义，大规模平行测序在临床上的应用有望改善这种疾病患者的治疗。已经发现了 25 多种反复发生的 MDS 相关体细胞突变，涉及染色质重塑和前体 mRNA 剪接等不同的生物学途径。其中一些突变已被证明具有独立于现有基于临床和病理参数的风险分层系统的预后意义。将这些最新发现应用于 MDS 患者的诊断、预后、风险分层和治疗选择，有可能改善患者的预后。在这里，我们回顾了 MDS 的最新进展，并讨论了这些发现在临床实践中的潜在应用。
