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液体活检和综合基因组分析在接受放疗的早期和寡转移癌患者中的临床应用。

Clinical utility of liquid biopsy and integrative genomic profiling in early-stage and oligometastatic cancer patients treated with radiotherapy.

机构信息

Laboratorio de Medicina Molecular, Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA), Oviedo, Asturias, Spain.

Servicio de Oncología Radioterápica, Instituto de Medicina Oncológica y Molecular de Asturias (IMOMA, Oviedo, Asturias, Spain.

出版信息

Br J Cancer. 2023 Mar;128(5):857-876. doi: 10.1038/s41416-022-02102-z. Epub 2022 Dec 22.

DOI:10.1038/s41416-022-02102-z
PMID:36550207
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9977775/
Abstract

BACKGROUND

Liquid biopsy and Integrative Genomic Profiling (IGP) are yet to be implemented into routine Radiation Oncology. Here we assess the utility of germline, tumour and circulating cell-free DNA-based genomic analyses for the clinical management of early-stage and oligometastatic cancer patients treated by precision radiotherapy.

METHODS

We performed germline, tissue- and liquid biopsy NGS panels on 50 early-stage/oligometastatic cancer patients undergoing radiotherapy. We also monitored ctDNA variants in serial liquid biopsies collected during radiotherapy and follow-up and evaluated the clinical utility of such comprehensive approach.

RESULTS

The integration of different genomic studies revealed that only 1/3 of the liquid biopsy variants are of tumour origin. Altogether, 55 tumour variants (affecting 3/4 of the patients) were considered potentially actionable (for treatment and prognosis), whereas potential follow-up biomarkers were identified in all cases. Germline cancer-predisposing variants were present in three patients, which would have not been eligible for hereditary cancer testing according to clinical guidelines. The presence of detectable ctDNA variants before radiotherapy was associated with progression-free survival both in oligometastatic patients and in those with early-stage.

CONCLUSIONS

IGP provides both valuable and actionable information for personalised decision-making in Radiation Oncology.

摘要

背景

液体活检和综合基因组分析（IGP）尚未在常规放射肿瘤学中实施。在这里，我们评估了基于种系、肿瘤和循环无细胞 DNA 的基因组分析在接受精准放射治疗的早期和寡转移癌症患者的临床管理中的应用。

方法

我们对 50 名接受放射治疗的早期/寡转移癌症患者进行了种系、组织和液体活检 NGS 面板检测。我们还在放射治疗和随访期间连续采集的液体活检中监测了 ctDNA 变体，并评估了这种综合方法的临床实用性。

结果

不同基因组研究的整合表明，只有 1/3 的液体活检变体来源于肿瘤。总的来说，有 55 个肿瘤变体（影响 3/4 的患者）被认为具有潜在的可操作性（用于治疗和预后），而所有情况下都确定了潜在的随访生物标志物。有 3 名患者存在种系易患癌症的变异，根据临床指南，这些患者不符合遗传性癌症检测的条件。在放射治疗前存在可检测的 ctDNA 变体与寡转移患者和早期患者的无进展生存期相关。

结论

IGP 为放射肿瘤学中的个性化决策提供了有价值和可操作的信息。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/b7f3015c3e0b/41416_2022_2102_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/c2bc022d581d/41416_2022_2102_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/4befda3cc1e1/41416_2022_2102_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/bd267892b758/41416_2022_2102_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/951fc81c2f8c/41416_2022_2102_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/d9f3d2615861/41416_2022_2102_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/b7f3015c3e0b/41416_2022_2102_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/c2bc022d581d/41416_2022_2102_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/4befda3cc1e1/41416_2022_2102_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/bd267892b758/41416_2022_2102_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/951fc81c2f8c/41416_2022_2102_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/d9f3d2615861/41416_2022_2102_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bb8b/9977775/b7f3015c3e0b/41416_2022_2102_Fig6_HTML.jpg

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