Familial pituitary tumor syndromes

Nat Rev Endocrinol. 2009 Aug;5(8):453-61. doi: 10.1038/nrendo.2009.126. Epub 2009 Jun 30.

Abstract

The vast majority of pituitary tumors are benign and occur sporadically; however, they can still result in significant morbidity and even premature mortality through mass effects and hormone dysfunction. The etiology of sporadic tumors is still poorly understood; by contrast, advances have been made in our understanding of familial pituitary adenoma syndromes in the past decade. Currently, four genes are known to be associated with familial pituitary tumor syndromes: MEN1, CDKN1B, PRKAR1A and AIP. The first three genes are associated with a variety of extrapituitary pathologies, for example, primary hyperparathyroidism with multiple endocrine neoplasia type 1, which might aid identification of these syndromes. By contrast, AIP mutations seem to occur in the setting of isolated familial pituitary adenomas, particularly of the growth-hormone-secreting subtype. Awareness and identification of familial pituitary tumor syndromes is important because of potential associated pathologies and important implications for family members. Here, we review the current knowledge of familial pituitary tumor syndromes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cyclic AMP-Dependent Protein Kinase RIalpha Subunit / genetics
  • Cyclin-Dependent Kinase Inhibitor p27
  • Genetic Predisposition to Disease*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics
  • Multiple Endocrine Neoplasia / genetics
  • Multiple Endocrine Neoplasia / pathology
  • Pituitary Neoplasms / genetics*
  • Pituitary Neoplasms / pathology*
  • Proto-Oncogene Proteins / genetics
  • Syndrome

Substances

  • CDKN1B protein, human
  • Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
  • Intracellular Signaling Peptides and Proteins
  • MEN1 protein, human
  • PRKAR1A protein, human
  • Proto-Oncogene Proteins
  • aryl hydrocarbon receptor-interacting protein
  • Cyclin-Dependent Kinase Inhibitor p27