Neuroendocrine neoplasms incidence has been increasing, arising the need for precise and early diagnostic tools. Liquid biopsy (LB) offers a less invasive alternative to tissue biopsy, providing real-time molecular information from circulating tumour components in body fluids. The aim of this review is to analyse the current evidence concerning LB in NENs and its role in clinical practice. We conducted a systematic review in July 2024 focusing on LB applications in NENs, including circulating tumour cells (CTCs), circulating tumour DNA (ctDNA), micro RNA (miRNA), messenger RNA (mRNA) and extracellular vesicles. Sixty-five relevant articles were analysed. The LB showed potential in diagnosing and monitoring NENs. While CTCs face limitations due to low shedding, ctDNA provides valuable information on high-grade neoplasms. MiRNA and mRNA (e.g., the NETest) offer high sensitivity and specificity for diagnosis and prognosis, outperforming traditional markers like chromogranin A. The LB has significant potential for NEN diagnosis and monitoring but lacks widespread clinical integration due to limited prospective studies and guidelines, requiring further validation. Advances in sequencing technologies may enhance the clinical utility of LB in NENs. Future research should focus on refining LB methods, standardising protocols and exploring applications in high-grade NENs.
神经内分泌肿瘤发病率持续上升，亟需精准的早期诊断工具。液体活检作为组织活检的微创替代方案，能够通过体液中的循环肿瘤成分提供实时分子信息。本综述旨在系统分析当前液体活检在神经内分泌肿瘤中的应用证据及其临床价值。我们于2024年7月开展系统性文献回顾，聚焦循环肿瘤细胞、循环肿瘤DNA、微小RNA、信使RNA及细胞外囊泡等液体活检技术在神经内分泌肿瘤中的应用。共纳入65篇相关文献进行分析。研究表明液体活检在神经内分泌肿瘤诊断与监测中具有应用潜力：循环肿瘤细胞因脱落率低存在局限，而循环肿瘤DNA可为高级别肿瘤提供重要信息；微小RNA与信使RNA（如NETest检测）在诊断和预后评估中展现出优于嗜铬粒蛋白A等传统标志物的敏感性与特异性。当前液体活检虽在神经内分泌肿瘤领域前景广阔，但因前瞻性研究和临床指南不足尚未实现广泛应用，需进一步验证。测序技术的进步有望提升液体活检的临床效用，未来研究应致力于优化检测方法、建立标准化流程，并探索其在高级别神经内分泌肿瘤中的应用价值。
The Role of Liquid Biopsy in Gastroenteropancreatic Neuroendocrine Neoplasms
肿瘤(癌症)患者之家