Molecular Pathology of Well-Differentiated Gastro-entero-pancreatic Neuroendocrine Tumors

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.

Keywords: Gastrointestinal; Hepatobiliary; Molecular; Neuroendocrine tumor; Pancreatic.

Publication types

  • Review

MeSH terms

  • Gastrointestinal Neoplasms / genetics*
  • Gastrointestinal Neoplasms / pathology*
  • Humans
  • Neuroendocrine Tumors / genetics*
  • Neuroendocrine Tumors / pathology*
  • Oncogenes
  • Pancreatic Neoplasms / genetics*
  • Pancreatic Neoplasms / pathology*
  • Pathology, Molecular / methods*
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology*