Nassereddine Samah, Nishihori Taiga, Padron Eric, Mahfouz Rami, Bazarbachi Ali, Komrokji Rami S, Kharfan-Dabaja Mohamed A
Department of Internal Medicine, George Washington University, Washington, DC.
Department of Blood and Marrow Transplantation, Moffitt Cancer Center, Tampa, FL; Department of Oncologic Sciences, University of South Florida Morsani College of Medicine, Tampa, FL.
Clin Lymphoma Myeloma Leuk. 2017 Jan;17(1):7-13. doi: 10.1016/j.clml.2016.09.005. Epub 2016 Sep 16.
Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematopoietic neoplastic disorders most commonly occurring in the elderly population; MDS has a tendency to progress to acute leukemia. Although epigenetic therapies have improved the outcomes of MDS patients, allogeneic hematopoietic cell transplantation remains the only curative option. Molecular characterization of MDS using next-generation sequencing has expanded not only the knowledge on MDS but also the depth of understanding of evolution and contribution of recurrent somatic mutations in precursor conditions. Rapidly evolving genomic information on MDS may provide clinicians with better risk stratification tools and may also aid in supplying useful information to allow comprehensive therapeutic decision making for MDS patients. In this concise review, we summarize the current knowledge and understanding of recurrent somatic mutations in MDS and discuss salient genomic information predicting response and influencing therapeutic outcomes in the context of allogeneic hematopoietic cell transplantation, as well as the potential application of these findings into future clinical practice.
骨髓增生异常综合征(MDS)是一组异质性的克隆性造血肿瘤性疾病,最常见于老年人群;MDS有发展为急性白血病的倾向。尽管表观遗传疗法改善了MDS患者的治疗结果,但异基因造血细胞移植仍然是唯一的治愈选择。使用下一代测序对MDS进行分子特征分析,不仅扩展了对MDS的认识,也加深了对前驱疾病中复发性体细胞突变的演变和作用的理解。MDS快速发展的基因组信息可能为临床医生提供更好的风险分层工具,也有助于提供有用信息,以便为MDS患者做出全面的治疗决策。在这篇简要综述中,我们总结了目前对MDS中复发性体细胞突变的认识和理解,并讨论了在异基因造血细胞移植背景下预测反应和影响治疗结果的显著基因组信息,以及这些发现未来在临床实践中的潜在应用。