Department of Pathology, University Hospitals Cleveland Medical Center, Case Western Reserve University, Cleveland, OH, USA.
Institute of Pathology, University Hospital and University of Lausanne, Lausanne, Switzerland.
Endocr Pathol. 2021 Mar;32(1):169-191. doi: 10.1007/s12022-021-09662-5. Epub 2021 Jan 18.
Well differentiated neuroendocrine tumors (NETs) arising in the gastrointestinal and pancreaticobiliary system are the most common neuroendocrine neoplasms. Studies of the molecular basis of these lesions have identified genetic mutations that predispose to familial endocrine neoplasia syndromes and occur both as germline events and in sporadic tumors. The mutations often involve epigenetic regulators rather than the oncogenes and tumor suppressors that are affected in other malignancies. Somatic copy number alterations and miRNAs have also been implicated in the development and progression of some of these tumors. The molecular profiles differ by location, but many are shared by tumors in other sites, including those outside the gastroenteropancreatic system. The approach to therapy relies on both the neuroendocrine nature of these tumors and the identification of specific alterations that can serve as targets for precision oncologic approaches.
起源于胃肠道和胰胆系统的高分化神经内分泌肿瘤（NETs）是最常见的神经内分泌肿瘤。这些病变的分子基础研究已经确定了易患家族性内分泌肿瘤综合征的遗传突变，这些突变既可以作为种系事件发生，也可以在散发性肿瘤中发生。突变通常涉及表观遗传调节剂，而不是在其他恶性肿瘤中受影响的癌基因和肿瘤抑制基因。体细胞拷贝数改变和 miRNA 也与一些肿瘤的发生和发展有关。分子谱因位置而异，但许多与其他部位的肿瘤（包括胃肠胰外系统）共享，治疗方法依赖于这些肿瘤的神经内分泌特性以及确定可作为精准肿瘤学方法的靶向的特定改变。
