新一代基于测序的综合液体活检检测在治疗选择中的分析验证

IF 3.4 3区医学 Q1 PATHOLOGY

Journal of Molecular Diagnostics Pub Date : 2025-04-24 DOI:10.1016/j.jmoldx.2025.02.005

Hala Boulos, Christine Lo, Wei Zhu, Terri M. Driessen, Jason Yamada-Hanff, Taylor Harding, Ariane Lozac'hmeur, Tiana Pereira, Anne Sonnenschein, Josh Och, Ailin Jin, Nirali Patel, Rick Blidner, Robert Tell, Jonathan Freaney, Nike Beaubier, Brett Mahon

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引用次数: 0

摘要

在肿瘤实践中，液体活检是实时监测生物标志物、癌症复发和疾病负担的越来越重要的工具。Tempus xF+是一种液体活检技术，用于检测晚期实体瘤患者血液样本中的无细胞DNA。xF+面板涵盖了523个基因，跨越大约1.8 Mb的人类基因组，可以检测522个基因的单核苷酸变异和插入-缺失。它还检测到7个基因的拷贝数增加和10个基因的易位（基因重排）。此外，更大的面板尺寸允许计算血液肿瘤突变负担。这项工作强调了对xF+测定法进行的分析验证，将其与较小的面板液体活检法进行比较，计算血液肿瘤突变负担，并探索其潜在的临床应用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Analytical Validation of Next-Generation Sequencing–Based Comprehensive Liquid Biopsy Assay for Therapy Selection

Liquid biopsies are an increasingly important tool for the real-time monitoring of biomarkers, cancer recurrence, and disease burden in oncology practice. Tempus xF+ is a liquid biopsy assay that detects cell-free DNA in blood samples of patients with advanced solid tumors. The xF+ panel covers 523 genes spanning approximately 1.8 Mb of the human genome and can detect single-nucleotide variants and insertions-deletions in 522 genes. It also detects copy number gains in 7 genes and translocations (gene rearrangements) in 10 genes. Furthermore, the larger panel size allows for the calculation of blood tumor mutational burden. This work highlights the analytical validation performed for the xF+ assay, comparing it with a smaller panel liquid biopsy assay, calculating blood tumor mutational burden, and exploring its potential clinical utility.

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来源期刊

Journal of Molecular Diagnostics 医学-病理学

CiteScore

8.10

自引率

2.40%

发文量

143

审稿时长

43 days

期刊介绍： The Journal of Molecular Diagnostics, the official publication of the Association for Molecular Pathology (AMP), co-owned by the American Society for Investigative Pathology (ASIP), seeks to publish high quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine. The editors welcome for review articles that contain: novel discoveries or clinicopathologic correlations including studies in oncology, infectious diseases, inherited diseases, predisposition to disease, clinical informatics, or the description of polymorphisms linked to disease states or normal variations; the application of diagnostic methodologies in clinical trials; or the development of new or improved molecular methods which may be applied to diagnosis or monitoring of disease or disease predisposition.