[Review of Multiple Endocrine Neoplasia Type 1 Based on a Clinical Case]

Rev Med Chil. 2024 Jun;152(6):724-729. doi: 10.4067/s0034-98872024000600724.
[Article in Spanish]

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disease with an estimated prevalence of 2 per 100,000. This disease is caused by a mutation in the tumor suppressor gene MEN1, which is located on chromosome 11 and codifies the menin protein. It is characterized by a predisposition of parathyroids, enteropancreatic, and anterior pituitary tumors, affecting the quality of life and lifespan of those who have the disease. Clinical case: We present a case of a 24-year-old woman with recurrent episodes of symptomatic hypoglycemia and first-degree relatives who were diagnosed with insulinoma. Initial studies showed endogenous hyperinsulinism secondary to two pancreatic tumors, the main one measured 8.2 × 4.2 cm, and PTH-dependent hypercalcemia secondary to a parathyroid adenoma. Further studies, based on magnetic resonance imaging of the pituitary, showed a macroadenoma. Additionally, we performed a genetic study that evidenced a deletion in the IAT gene, which is compatible with MEN1 syndrome. Pancreatic and parathyroid surgery were performed, and function substitution therapies were initiated. Discussion: The diagnosis is established in the presence of two or more defining NEM1 tumors or at least one associated with compatible genetic testing or a first-degree relative with a history of MEN1. Screening and surveillance in patients with confirmed MEN1 diagnosis would enable the reduction of the disease burden, with a nonclear impact on lifespan.

Publication types

  • Case Reports
  • Review
  • English Abstract

MeSH terms

  • Adenoma* / diagnosis
  • Adenoma* / genetics
  • Adenoma* / therapy
  • Female
  • Humans
  • Insulinoma* / diagnosis
  • Insulinoma* / genetics
  • Insulinoma* / therapy
  • Multiple Endocrine Neoplasia Type 1* / complications
  • Multiple Endocrine Neoplasia Type 1* / diagnosis
  • Multiple Endocrine Neoplasia Type 1* / genetics
  • Multiple Endocrine Neoplasia Type 1* / therapy
  • Pancreatic Neoplasms* / diagnosis
  • Pancreatic Neoplasms* / genetics
  • Pancreatic Neoplasms* / therapy
  • Parathyroid Neoplasms* / diagnosis
  • Parathyroid Neoplasms* / genetics
  • Parathyroid Neoplasms* / therapy
  • Proto-Oncogene Proteins / genetics
  • Young Adult

Substances

  • Proto-Oncogene Proteins