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在癌症免疫疗法的患者选择中，癌症类型、panel 大小和肿瘤突变负担阈值之间的相互作用。

The interplay between cancer type, panel size and tumor mutational burden threshold in patient selection for cancer immunotherapy.

机构信息

Illumina, Inc., San Diego, CA, United States of America.

出版信息

PLoS Comput Biol. 2020 Nov 9;16(11):e1008332. doi: 10.1371/journal.pcbi.1008332. eCollection 2020 Nov.

DOI:10.1371/journal.pcbi.1008332
PMID:33166276
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7676656/
Abstract

The tumor mutational burden (TMB) is increasingly recognized as an emerging biomarker that predicts improved outcomes or response to immune checkpoint inhibitors in cancer. A multitude of technical and biological factors make it difficult to compare TMB values across platforms, histologies, and treatments. Here, we present a mechanistic model that explains the association between panel size, histology, and TMB threshold with panel performance and survival outcome and demonstrate the limitations of existing methods utilized to harmonize TMB across platforms.

摘要

肿瘤突变负担（TMB）越来越被认为是一种新兴的生物标志物，可预测癌症患者对免疫检查点抑制剂的疗效或反应改善。多种技术和生物学因素使得跨平台、组织学和治疗方法比较 TMB 值变得困难。在这里，我们提出了一个机制模型，解释了面板大小、组织学和 TMB 阈值与面板性能和生存结果之间的关联，并展示了用于跨平台协调 TMB 的现有方法的局限性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/7676656/6619699a046f/pcbi.1008332.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/7676656/1009675ec291/pcbi.1008332.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/7676656/2711a500bf23/pcbi.1008332.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/7676656/6619699a046f/pcbi.1008332.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/7676656/1009675ec291/pcbi.1008332.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/7676656/2711a500bf23/pcbi.1008332.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0c34/7676656/6619699a046f/pcbi.1008332.g003.jpg

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J Immunother Cancer. 2020 Mar;8(1). doi: 10.1136/jitc-2019-000147.
2
Quantifying potential confounders of panel-based tumor mutational burden (TMB) measurement.量化基于面板的肿瘤突变负担（TMB）测量的潜在混杂因素。
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J Clin Oncol. 2023 Jun 10;41(17):3225-3235. doi: 10.1200/JCO.22.02144. Epub 2023 Mar 16.
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Data-driven design of targeted gene panels for estimating immunotherapy biomarkers.基于数据驱动的靶向基因panel 设计用于免疫治疗标志物的评估。
Commun Biol. 2022 Feb 23;5(1):156. doi: 10.1038/s42003-022-03098-1.
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Paired analysis of tumor mutation burden calculated by targeted deep sequencing panel and whole exome sequencing in non-small cell lung cancer.非小细胞肺癌中基于靶向深度测序 panel 和全外显子测序计算的肿瘤突变负荷的配对分析。
BMB Rep. 2021 Jul;54(7):386-391. doi: 10.5483/BMBRep.2021.54.7.045.
Harmonization of Tumor Mutational Burden Quantification and Association With Response to Immune Checkpoint Blockade in Non-Small-Cell Lung Cancer.
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