Cho Young-Uk
Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea.
Blood Res. 2024 Mar 6;59(1):11. doi: 10.1007/s44313-024-00010-0.
Next-generation sequencing (NGS) allows high-throughput detection of molecular changes in tumors. Over the past 15 years, NGS has rapidly evolved from a promising research tool to a core component of the clinical laboratory. Sequencing of tumor cells provides an important step in detecting somatic driver mutations that not only characterize the disease but also influence treatment decisions. For patients with hematologic malignancies, NGS has been used for accurate classification and diagnosis based on genetic alterations. The recently revised World Health Organization classification and the European LeukemiaNet recommendations for acute myeloid leukemia consider genetic abnormalities as a top priority for diagnosis, prognostication, monitoring of measurable residual disease, and treatment choice. This review aims to present the role and utility of various NGS approaches for the diagnosis, treatment, and follow-up of hemato-oncology patients.
下一代测序（NGS）可实现对肿瘤分子变化的高通量检测。在过去15年中，NGS已从一种有前景的研究工具迅速发展成为临床实验室的核心组成部分。肿瘤细胞测序是检测体细胞驱动突变的重要步骤，这些突变不仅可表征疾病，还会影响治疗决策。对于血液系统恶性肿瘤患者，NGS已用于基于基因改变的准确分类和诊断。最近修订的世界卫生组织分类以及欧洲白血病网关于急性髓系白血病的建议将基因异常视为诊断、预后评估、可测量残留病监测及治疗选择的首要考量因素。本综述旨在介绍各种NGS方法在血液肿瘤学患者诊断、治疗及随访中的作用和应用。
