Growth hormone-releasing hormone-producing pancreatic neuroendocrine tumor in a multiple endocrine neoplasia type 1 family with an uncommon phenotype

Eur J Gastroenterol Hepatol. 2013 Jul;25(7):858-62. doi: 10.1097/MEG.0b013e32835f433f.

Abstract

The objective of this study was to describe a multiple endocrine neoplasia type 1 (MEN1) family characterized by primary hyperparathyroidism, in association with acromegaly because of ectopic growth hormone-releasing hormone (GHRH) secretion by a pancreatic neuroendocrine tumor in a young man and with a bronchial carcinoid in his mother. We investigate the clinical, radiological imaging, histopathologic findings, and therapy. An 18-year-old man successfully underwent subtotal parathyroidectomy for primary hyperparathyroidism. A subsequent genetic analysis showed a MEN1 gene mutation. Three years later, acromegaly because of ectopic GHRH secretion was diagnosed (pituitary MRI negative and elevated GHRH levels). A search for an ectopic tumor was unsuccessful and somatostatin analog therapy was started. Successively, scintigraphy with somatostatin analogs (68-Ga-DOTATOC-PET) showed three focal areas in the pancreatic tail. Distal pancreatectomy showed multiple pancreatic neuroendocrine tumors and hormonal status was normalized. Afterwards, the evaluation of the patient's mother, carrying the same mutation, indicated a primary hyperparathyroidism and a 4 cm lung mass. The patient underwent subtotal pneumonectomy and the histological analysis was consistent with the diagnosis of a typical bronchial carcinoid. In conclusion, an atypical phenotype may be recorded in MEN1 families, thus emphasizing the importance of the new imaging and surgical techniques in the diagnosis and treatment of such a rare disease.

Publication types

  • Case Reports

MeSH terms

  • Acromegaly / etiology
  • Adolescent
  • Bronchial Neoplasms / genetics
  • Bronchial Neoplasms / surgery
  • Carcinoid Tumor / genetics
  • Carcinoid Tumor / surgery
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Growth Hormone-Releasing Hormone / metabolism*
  • Heredity
  • Humans
  • Hyperparathyroidism, Primary / etiology
  • Male
  • Middle Aged
  • Multiple Endocrine Neoplasia Type 1 / complications
  • Multiple Endocrine Neoplasia Type 1 / diagnosis
  • Multiple Endocrine Neoplasia Type 1 / genetics
  • Multiple Endocrine Neoplasia Type 1 / metabolism*
  • Multiple Endocrine Neoplasia Type 1 / therapy
  • Mutation
  • Neuroendocrine Tumors / complications
  • Neuroendocrine Tumors / diagnosis
  • Neuroendocrine Tumors / genetics
  • Neuroendocrine Tumors / metabolism*
  • Neuroendocrine Tumors / therapy
  • Pancreatectomy
  • Pancreatic Neoplasms / complications
  • Pancreatic Neoplasms / diagnosis
  • Pancreatic Neoplasms / genetics
  • Pancreatic Neoplasms / metabolism*
  • Pancreatic Neoplasms / therapy
  • Parathyroidectomy
  • Pedigree
  • Phenotype
  • Pneumonectomy
  • Proto-Oncogene Proteins / genetics
  • Treatment Outcome

Substances

  • MEN1 protein, human
  • Proto-Oncogene Proteins
  • Growth Hormone-Releasing Hormone