Colapietra Federica, Della Monica Paola, Di Napoli Raffaella, França Vieira E Silva Fábio, Settembre Giuliana, Marino Maria Michela, Ballini Andrea, Cantore Stefania, Di Domenico Marina
Department of Precision Medicine, University of Campania Luigi Vanvitelli, Via Abramo Lincoln, 5, 81100 Caserta, Italy.
Department of Advanced Medical and Surgical Science, University of Campania Luigi Vanvitelli, Via Abramo Lincoln, 5, 81100 Caserta, Italy.
J Clin Med. 2025 Apr 11;14(8):2622. doi: 10.3390/jcm14082622.
Neuroendocrine neoplasms (NENs) comprise a heterogeneous tumor group arising from neuroendocrine cells, commonly originating in the gastroenteropancreatic tract and bronchopulmonary system. Their incidence has risen significantly, owing to improved diagnostic techniques and increased clinical recognition. While previous reviews have explored the molecular and genetic basis of NENs, limited attention has been given to the role of epigenetic modifications, particularly DNA methylation, in tumorigenesis and disease progression. This review focuses on lung, pancreas, and thyroid well-differentiated neuroendocrine tumors (NETs), highlighting epigenetic mechanisms, particularly DNA methylation, as promising biomarkers for early diagnosis and risk stratification. Aberrant DNA methylation can silence key tumor suppressor genes, including RASSF1A and CDKN2A, thereby promoting tumorigenesis. Integrating DNA methylation profiles with conventional biomarkers such as chromogranin A (CgA) may enhance diagnostic accuracy and inform therapeutic strategies. Emerging epigenetic therapies offer potential avenues for personalized treatment based on molecular profiling. Unlike prior reviews that broadly cover genetic and epigenetic changes in NENs, this review uniquely emphasizes the translational potential of epigenetic biomarkers in clinical practice. By synthesizing recent findings and evaluating their clinical implications, we aim to bridge the gap between molecular research and practical applications in diagnosis, prognosis, and therapy.
神经内分泌肿瘤(NENs)是一组起源于神经内分泌细胞的异质性肿瘤,通常起源于胃肠胰道和支气管肺系统。由于诊断技术的改进和临床认知度的提高,其发病率显著上升。虽然以往的综述探讨了NENs的分子和遗传基础,但对表观遗传修饰,特别是DNA甲基化在肿瘤发生和疾病进展中的作用关注有限。本综述聚焦于肺、胰腺和甲状腺的高分化神经内分泌肿瘤(NETs),强调表观遗传机制,特别是DNA甲基化,作为早期诊断和风险分层的有前景的生物标志物。异常的DNA甲基化可使关键的肿瘤抑制基因沉默,包括RASSF1A和CDKN2A,从而促进肿瘤发生。将DNA甲基化谱与嗜铬粒蛋白A(CgA)等传统生物标志物相结合,可能提高诊断准确性并为治疗策略提供依据。新兴的表观遗传疗法为基于分子谱分析的个性化治疗提供了潜在途径。与以往广泛涵盖NENs遗传和表观遗传变化的综述不同,本综述独特地强调了表观遗传生物标志物在临床实践中的转化潜力。通过综合近期研究结果并评估其临床意义,我们旨在弥合分子研究与诊断、预后和治疗实际应用之间的差距。