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单全基因组测序分析为精准医学开辟了道路。

Single whole genome sequencing analysis blazes the trail for precision medicine.

机构信息

Molecular Pharmacology Section, Genitourinary Malignancies Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

Cancer Biol Ther. 2022 Dec 31;23(1):134-135. doi: 10.1080/15384047.2022.2033058.

DOI:10.1080/15384047.2022.2033058
PMID:35129071
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8820807/
Abstract

As precision oncology evolves toward developing more targeted therapies, sequencing has moved to the forefront of treatment decision-making. Whole genome sequencing (WGS) has emerged as a technology capable of identifying candidates for rare and targeted treatments. Yet, because the tumor is constantly evolving during relapse and therapy resistance, the frequency with which WGS should be performed to identify potential new therapies for progressing patients remains unknown. A recent study in by Van de Haar et al. observed a remarkably stable driver gene mutational profile among 250 biopsy pairs from 231 patients undergoing standard of care treatments during the biopsy interval. Their findings suggest that the actionable metastatic cancer genome is relatively stable over time and that a single WGS provides a complete view of the treatment opportunities available to most metastatic cancer patients.

摘要

随着精准肿瘤学向开发更具针对性的治疗方法发展,测序已成为治疗决策的前沿。全基因组测序(WGS)已成为一种能够识别罕见和靶向治疗候选者的技术。然而,由于肿瘤在复发和治疗耐药期间不断进化,因此仍不清楚为进展患者确定潜在新疗法时应进行多少次 WGS。Van de Haar 等人最近在[杂志名称]上发表的一项研究观察了 231 名患者的 250 对活检样本中 250 对活检样本中的驱动基因突变谱,这些患者在活检间隔期间接受标准治疗。他们的发现表明,可操作的转移性癌症基因组随时间相对稳定,单次 WGS 可提供大多数转移性癌症患者可用的治疗机会的完整视图。

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Single whole genome sequencing analysis blazes the trail for precision medicine.单全基因组测序分析为精准医学开辟了道路。
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Diagnostic value of liquid biopsy in the era of precision medicine: 10 years of clinical evidence in cancer.精准医学时代液体活检的诊断价值:癌症领域10年临床证据
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本文引用的文献

1
Plasma-Based Genotyping in Advanced Solid Tumors: A Comprehensive Review.晚期实体瘤中的血浆基因分型:综述
Cancers (Basel). 2021 Oct 22;13(21):5299. doi: 10.3390/cancers13215299.
2
Metastatic Castration-Resistant Prostate Cancer Remains Dependent on Oncogenic Drivers Found in Primary Tumors.转移性去势抵抗性前列腺癌仍然依赖于原发肿瘤中发现的致癌驱动因素。
JCO Precis Oncol. 2021 Sep 16;5. doi: 10.1200/PO.21.00059. eCollection 2021.
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Limited evolution of the actionable metastatic cancer genome under therapeutic pressure.在治疗压力下,可操作转移性癌症基因组的有限进化。
Nat Med. 2021 Sep;27(9):1553-1563. doi: 10.1038/s41591-021-01448-w. Epub 2021 Aug 9.
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Comparison of solid tissue sequencing and liquid biopsy accuracy in identification of clinically relevant gene mutations and rearrangements in lung adenocarcinomas.固体组织测序与液体活检在识别肺腺癌临床相关基因突变和重排方面的准确性比较。
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Single-cell lineage tracing of metastatic cancer reveals selection of hybrid EMT states.单细胞谱系追踪转移性癌症揭示了杂交 EMT 状态的选择。
Cancer Cell. 2021 Aug 9;39(8):1150-1162.e9. doi: 10.1016/j.ccell.2021.05.005. Epub 2021 Jun 10.
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Molecular Landscape and Actionable Alterations in a Genomically Guided Cancer Clinical Trial: National Cancer Institute Molecular Analysis for Therapy Choice (NCI-MATCH).基于基因组的癌症临床试验的分子图谱和可操作的改变:美国国立癌症研究所分子分析用于治疗选择(NCI-MATCH)。
J Clin Oncol. 2020 Nov 20;38(33):3883-3894. doi: 10.1200/JCO.19.03010. Epub 2020 Oct 13.
8
The mutational footprints of cancer therapies.癌症治疗的突变足迹。
Nat Genet. 2019 Dec;51(12):1732-1740. doi: 10.1038/s41588-019-0525-5. Epub 2019 Nov 18.
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Somatic evolutionary timings of driver mutations.驱动基因突变的体细胞进化时间。
BMC Cancer. 2018 Jan 18;18(1):85. doi: 10.1186/s12885-017-3977-y.
10
Clonal Heterogeneity and Tumor Evolution: Past, Present, and the Future.克隆异质性与肿瘤演进:过去、现在与未来。
Cell. 2017 Feb 9;168(4):613-628. doi: 10.1016/j.cell.2017.01.018.