Do pituitary adenomas have a familial tendency?

From the Guidelines

Pituitary adenomas can run in families, with approximately 5% of cases occurring as part of genetic syndromes that are passed down through families, as supported by the most recent and highest quality study 1. The most common inherited conditions associated with pituitary tumors include Multiple Endocrine Neoplasia type 1 (MEN1), Multiple Endocrine Neoplasia type 4 (MEN4), Carney Complex, and Familial Isolated Pituitary Adenoma (FIPA).

• Key points to consider:
  • If you have a first-degree relative (parent, sibling, or child) with a pituitary adenoma, your risk may be slightly higher than the general population, as noted in 1.
  • People with family histories of these tumors should inform their healthcare providers, as earlier screening might be recommended, especially if symptoms develop.
  • The genetic basis involves mutations in specific genes like MEN1, CDKN1B, PRKAR1A, or AIP that regulate cell growth and hormone production in the pituitary gland, as discussed in 1 and 1.
  • These mutations can disrupt normal cellular controls, leading to tumor development.
  • If you're concerned about family history, genetic counseling can help determine if testing is appropriate for you and your family members, as recommended in 1. It is essential to prioritize genetic assessment and counseling for individuals with a family history of pituitary adenomas, as this can inform management and family surveillance, and ultimately improve outcomes in terms of morbidity, mortality, and quality of life.

From the Research

Pituitary Adenomas and Familial Occurrence

• Pituitary adenomas can occur in a familial setting, with approximately 5% of all cases being familial 2, 3, 4, 5.
• Familial pituitary adenomas can be part of multiple endocrine neoplasia type 1 (MEN1) or Carney complex (CNC), which are caused by mutations in the MEN1 and PRKAR1A genes, respectively 2, 3, 4, 5.
• Familial isolated pituitary adenomas (FIPA) is a clinical syndrome where pituitary adenomas occur in a familial setting without MEN1 or CNC, and can include all types of pituitary adenomas 2, 3, 4, 6, 5.

Genetic Features of FIPA

• AIP gene mutations are found in approximately 15-25% of FIPA patients, and are more common in homogeneous somatotropinoma families 2, 3, 4, 6, 5.
• FIPA patients with AIP mutations tend to be younger at diagnosis and have larger tumors than those without AIP mutations 2, 6.
• The genetic pathophysiology of FIPA is diverse, and not all cases can be explained by AIP mutations 3, 6.

Clinical Features of FIPA

• FIPA patients are often younger at diagnosis and have larger tumors than sporadic pituitary adenoma patients 2, 3.
• FIPA can include all types of pituitary adenomas, but prolactinomas and somatotropinomas are more common 2, 3.
• Clinically relevant pituitary adenomas are more common than previously thought, and occur in a familial setting in about 5% of cases overall 3.