Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio 44195; email:
Annu Rev Med. 2017 Jan 14;68:127-137. doi: 10.1146/annurev-med-062915-095637. Epub 2016 Sep 7.
Precision medicine can be simply defined as the identification of personalized treatment that matches patient-specific clinical and genomic characteristics. Since the completion of the Human Genome Project in 2003, significant advances have been made in our understanding of the genetic makeup of diseases, especially cancers. The identification of somatic mutations that can drive cancer has led to the development of therapies that specifically target the abnormal proteins derived from these mutations. This has led to a paradigm shift in our treatment methodology. Although some success has been achieved in targeting some genetic abnormalities, several challenges and limitations exist when applying precision-medicine concepts in leukemia and myelodysplastic syndromes. We review the current understanding of genomics in myelodysplastic syndromes (MDS) and leukemias and the limitations of precision-medicine concepts in MDS.
精准医学可以简单地定义为识别个性化的治疗方法，该方法与患者特定的临床和基因组特征相匹配。自 2003 年人类基因组计划完成以来，我们对疾病（尤其是癌症）的遗传构成的理解取得了重大进展。鉴定出可以驱动癌症的体细胞突变，导致了专门针对这些突变产生的异常蛋白的治疗方法的发展。这导致了我们治疗方法的范式转变。尽管在针对某些遗传异常方面取得了一些成功，但在将精准医学概念应用于白血病和骨髓增生异常综合征时存在一些挑战和局限性。我们回顾了骨髓增生异常综合征（MDS）和白血病中基因组学的当前理解，以及 MDS 中精准医学概念的局限性。
