New strategies in myelodysplastic syndromes: application of molecular diagnostics to clinical practice.
New strategies in myelodysplastic syndromes: application of molecular diagnostics to clinical practice.
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DOI：
10.1158/1078-0432.ccr-12-1251
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发表时间：
2013-04-01
期刊：
影响因子：
--
通讯作者：
Ebert BL
中科院分区：
文献类型：
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作者：
Tothova Z;Steensma DP;Ebert BL
骨髓增生异常综合征（MDS）中复发突变基因的一个越来越完整的纲要已经被定义，并且在临床实践中应用大规模平行测序来识别突变，现在有望改善这种疾病患者的护理。已经鉴定了超过25种复发性MDS相关的体细胞突变，涉及染色质重塑和前mRNA剪接等多种生物学途径。这些突变中的一些已被证明具有预后意义，其独立于基于临床和病理参数的现有风险分层系统。应用这些最新发现对MDS患者进行诊断、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。
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 biological pathways as diverse as chromatin remodeling and pre-mRNA splicing. Several of these mutations have been demonstrated to have prognostic implications that are independent of existing risk stratification systems based on clinical and pathological 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.