Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center, Houston, USA.
Departments of Melanoma Medical Oncology and Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, USA.
Curr Oncol Rep. 2017 Oct 13;19(12):78. doi: 10.1007/s11912-017-0641-2.
Sarcomas are rare, heterogeneous group of soft tissue and bone tumors. Precise diagnosis of specific subtypes is challenging using conventional methods. Herein, we review the role of next-generation sequencing (NGS) technology that is used for rapid sequencing of DNA and RNA.
Recent sarcoma specific studies recommend that molecular genetic testing should be added at diagnosis for appropriate clinical management in addition to diagnosis by expert pathologists. NGS has already been used to identify potentially actionable mutations, copy number alterations, and gene fusions. Rationally, choosing a drug based on an individual patient profile aka: "precision oncology" has been so far limited to few case reports in sarcomas. As we improve our ability to deliver personalized medicine using all modalities including conventional therapy, more patients may eventually benefit. As the cost and capacity of NGS outpace Moore's law, so does the probability of success.
肉瘤是一种罕见的、异质性的软组织和骨肿瘤。使用常规方法精确诊断特定亚型具有挑战性。在此，我们综述了下一代测序（NGS）技术的作用，该技术用于快速测序 DNA 和 RNA。
最近的肉瘤特异性研究建议，除了由专家病理学家进行诊断外，在诊断时还应添加分子遗传学检测，以进行适当的临床管理。NGS 已用于鉴定潜在的可操作突变、拷贝数改变和基因融合。从理论上讲，基于个体患者谱选择药物，即“精准肿瘤学”，迄今为止在肉瘤中仅局限于少数病例报告。随着我们提高使用包括常规疗法在内的所有方式提供个性化医疗的能力，更多的患者可能最终受益。随着 NGS 的成本和容量超过摩尔定律，成功的可能性也在增加。
