研究动态
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液体活检在儿科实体瘤中应用的全面概述。

A comprehensive overview of liquid biopsy applications in pediatric solid tumors.

发表日期:2024 Aug 03
作者: Ferdinand W Janssen, Nathalie S M Lak, Claudia Y Janda, Lennart A Kester, Michael T Meister, Johannes H M Merks, Marry M van den Heuvel-Eibrink, Max M van Noesel, Jozsef Zsiros, Godelieve A M Tytgat, Leendert H J Looijenga
来源: npj Precision Oncology

摘要:

液体活检正在成为儿科癌症生物标志物的替代来源,在从诊断到长期随访的患者护理的各个阶段都有潜在的应用。虽然报道了该领域的进展,但这些进展主要集中在专用项目上,例如特定的液体活检基质、分析物和/或单一肿瘤类型。据我们所知,缺乏全面的概述。在这里,我们回顾了最常见的非中枢神经系统儿童实体瘤液体活检研究的现状。这些包括神经母细胞瘤、肾肿瘤、生殖细胞肿瘤、骨肉瘤、尤文肉瘤、横纹肌肉瘤和其他软组织肉瘤以及肝脏肿瘤。在这个选择中,我们讨论了最重要或最近的研究,涉及基于液体活检的生物标志物、预期的临床应用以及当前成功的挑战。此外,我们根据 1989 年至 2023 年之间的综合文献检索,提供了每种肿瘤类型基于液体活检的生物标志物出版物产出的概述。根据确定的每项研究,我们列出了相关的基于液体活检的生物标志物、基质(例如外周血、骨髓或脑脊液)、分析物(例如,循环无细胞和肿瘤 DNA、microRNA 和循环肿瘤细胞)、方法(例如,数字液滴 PCR 和下一代测序)、涉及的儿科患者队列,以及拟议的应用程序。因此,我们确定了 344 种独特的出版物。总而言之,虽然儿科肿瘤学的液体活检领域仍然落后于成人肿瘤学,但潜在的相关出版物在过去十年中有所增加。重要的是,临床实施的步骤正在迅速取得进展,特别是通过在儿科临床试验中验证基于液体活检的生物标志物。© 2024。作者。
Liquid biopsies are emerging as an alternative source for pediatric cancer biomarkers with potential applications during all stages of patient care, from diagnosis to long-term follow-up. While developments within this field are reported, these mainly focus on dedicated items such as a specific liquid biopsy matrix, analyte, and/or single tumor type. To the best of our knowledge, a comprehensive overview is lacking. Here, we review the current state of liquid biopsy research for the most common non-central nervous system pediatric solid tumors. These include neuroblastoma, renal tumors, germ cell tumors, osteosarcoma, Ewing sarcoma, rhabdomyosarcoma and other soft tissue sarcomas, and liver tumors. Within this selection, we discuss the most important or recent studies involving liquid biopsy-based biomarkers, anticipated clinical applications, and the current challenges for success. Furthermore, we provide an overview of liquid biopsy-based biomarker publication output for each tumor type based on a comprehensive literature search between 1989 and 2023. Per study identified, we list the relevant liquid biopsy-based biomarkers, matrices (e.g., peripheral blood, bone marrow, or cerebrospinal fluid), analytes (e.g., circulating cell-free and tumor DNA, microRNAs, and circulating tumor cells), methods (e.g., digital droplet PCR and next-generation sequencing), the involved pediatric patient cohort, and proposed applications. As such, we identified 344 unique publications. Taken together, while the liquid biopsy field in pediatric oncology is still behind adult oncology, potentially relevant publications have increased over the last decade. Importantly, steps towards clinical implementation are rapidly gaining ground, notably through validation of liquid biopsy-based biomarkers in pediatric clinical trials.© 2024. The Author(s).