Multiple Endocrine Neoplasia Type 1 Syndrome Pancreatic Neuroendocrine Tumor Genotype/Phenotype: Is There Any Advance on Predicting or Preventing?

Surg Oncol Clin N Am. 2023 Apr;32(2):315-325. doi: 10.1016/j.soc.2022.10.008.

Abstract

Multiple endocrine neoplasia type 1 syndrome (MEN1) is a disease caused by mutations in the MEN1 tumor suppressor gene leading to hyperparathyroidism, pituitary adenomas, and entero-pancreatic neuroendocrine tumors. Pancreatic neuroendocrine tumors (PNETs) are a major cause of mortality in patients with MEN1. Identification of consistent genotype-phenotype correlations has remained elusive, but MEN1 mutations in exons 2, 9, and 10 may be associated with metastatic PNETs; patients with these mutations may benefit from more intensive surveillance and aggressive treatment. In addition, epigenetic differences between MEN1-associated PNETs and sporadic PNETs are beginning to emerge, but further investigation is required to establish clear phenotypic associations.

Keywords: Epigenetic; Genotype; Menin; Multiple endocrine neoplasia type 1 syndrome (MEN1); Pancreatic neuroendocrine tumor (PNET); Phenotype.

Publication types

  • Review
  • Research Support, N.I.H., Intramural

MeSH terms

  • Genotype
  • Humans
  • Multiple Endocrine Neoplasia Type 1* / complications
  • Multiple Endocrine Neoplasia Type 1* / genetics
  • Multiple Endocrine Neoplasia Type 1* / pathology
  • Neuroectodermal Tumors, Primitive* / complications
  • Neuroendocrine Tumors* / genetics
  • Pancreatic Neoplasms* / genetics
  • Pancreatic Neoplasms* / pathology
  • Phenotype

Substances

  • MEN1 protein, human