Division of Gastroenterology, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
Department of Medicine and Surgery, University of Milano-Bicocca, Milan, Italy.
Expert Rev Endocrinol Metab. 2024 Jul;19(4):349-366. doi: 10.1080/17446651.2024.2363537. Epub 2024 Jun 5.
Neuroendocrine neoplasms (NENs) represent a complex group of tumors arising from neuroendocrine cells, characterized by heterogeneous behavior and challenging diagnostics. Despite advancements in medical technology, NENs present a major challenge in early detection, often leading to delayed diagnosis and variable outcomes. This review aims to provide an in-depth analysis of current diagnostic methods as well as the evolving and future directions of diagnostic strategies for NENs.
The review extensively covers the evolution of diagnostic tools for NENs, from traditional imaging and biochemical tests to advanced genomic profiling and next-generation sequencing. The emerging role of technologies such as artificial intelligence, machine learning, and liquid biopsies could improve diagnostic precision, as could the integration of imaging modalities such as positron emission tomography (PET)/magnetic resonance imaging (MRI) hybrids and innovative radiotracers.
Despite progress, there is still a significant gap in the early diagnosis of NENs. Bridging this diagnostic gap and integrating advanced technologies and precision medicine are crucial to improving patient outcomes. However, challenges such as low clinical awareness, limited possibility of noninvasive diagnostic tools and funding limitations for rare diseases like NENs are acknowledged.
神经内分泌肿瘤（NENs）是一类起源于神经内分泌细胞的复杂肿瘤，其具有异质性的生物学行为，诊断极具挑战性。尽管医学技术取得了进步，但 NENs 的早期检测仍然是一个重大挑战，往往导致诊断延迟和结果的差异。本综述旨在深入分析当前的诊断方法，以及 NENs 诊断策略的发展和未来方向。
本综述广泛涵盖了 NENs 诊断工具的演变，从传统的影像学和生化检测到先进的基因组分析和下一代测序。人工智能、机器学习和液体活检等技术的新兴作用可以提高诊断精度，而将影像学模式（如正电子发射断层扫描/磁共振成像（PET/MRI）混合体和创新放射性示踪剂）整合起来也可以提高诊断精度。
尽管取得了进展，但 NENs 的早期诊断仍存在显著差距。缩小这一诊断差距并整合先进技术和精准医疗对于改善患者预后至关重要。然而，也存在一些挑战，如临床意识较低、非侵入性诊断工具的可能性有限，以及罕见疾病（如 NENs）的资金限制等。
