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基于二代测序的血液系统恶性肿瘤多基因检测面板:治疗意义

[NGS-based multi-gene panel testing in hematological malignancies: therapeutic significance].

作者信息

Maeda Takahiro

机构信息

Division of Precision Medicine, Kyushu University Graduate School of Medical Sciences.

出版信息

Rinsho Ketsueki. 2022;63(4):302-307. 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

基于新一代测序(NGS)的多基因检测能够评估与癌症发病机制相关的数百个基因的突变状态。尽管此类检测已获日本药品和医疗器械管理局批准用于治疗难治性实体瘤患者,但目前尚无针对血液系统恶性肿瘤的可用检测。这些检测所得到的信息主要用于确定实体瘤的潜在治疗方案或靶向治疗。然而,血液系统恶性肿瘤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管理。本综述总结了基于NGS的多基因检测相对于传统检测在确定血液系统恶性肿瘤治疗策略方面的潜在优势。

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