关键词: Next-generation sequencing Panel testing Precision medicine

Mesh : Hematologic Neoplasms / diagnosis genetics therapy High-Throughput Nucleotide Sequencing Humans Mutation Neoplasms / genetics Prognosis

来  源:   DOI:10.11406/rinketsu.63.302

Abstract:
Next-generation sequencing (NGS)-based multigene panel testing enables assessment of the mutational status of a few hundred genes associated with cancer pathogenesis. Although such tests have been approved by the Pharmaceuticals and Medical Devices Agency for use in patients with treatment-refractory solid tumors,there are no currently available tests for hematologic malignancies. The resultant information from these panel tests is primarily used to identify a potential treatment regimen or targeted therapy for solid tumors. However, genome profiling in hematologic malignancies also guides the clinical management of patients by providing diagnostic and prognostic information. This review summarizes the potential advantage of NGS-based multigene panel tests over conventional tests to determine therapeutic strategies for hematologic malignancies.
摘要:
基于下一代测序(NGS)的多基因小组测试可以评估与癌症发病机理相关的几百个基因的突变状态。尽管此类测试已被制药和医疗器械局批准用于治疗难治性实体瘤的患者,目前尚无血液系统恶性肿瘤的检测方法.来自这些小组测试的结果信息主要用于鉴定实体瘤的潜在治疗方案或靶向疗法。然而,恶性血液病的基因组分析也通过提供诊断和预后信息来指导患者的临床治疗.这篇综述总结了基于NGS的多基因小组测试相对于常规测试的潜在优势,以确定血液系统恶性肿瘤的治疗策略。
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