Characteristics of Familial Isolated Pituitary Adenomas

Adrian F Daly; Jean-François Vanbellinghen; Albert Beckers

Disclosures

Expert Rev Endocrinol Metab. 2007;2(6):725-733. 

In This Article

Expert Commentary

With the description of FIPA, the issue of familial links in pituitary tumors and the risk of genetic inheritance of pituitary tumor has been broadened. When considered together, familial forms of pituitary tumors account for approximately 5% of tumors that occur in everyday practice. This reinforces the importance of including a detailed family history in the assessment of all patients with pituitary tumors. FIPA allows for a clinically based description of isolated pituitary adenomas that present in the familial setting in the absence of MEN-1 and CNC, and can encompass various causes, such as AIP and other, as yet unidentified, molecular genetic causes. From a practical perspective, pituitary adenomas of all phenotypes can occur in a familial setting, not only acromegaly. In FIPA, tumors may be of homogeneous phenotype within a family or members of the same family may have different pituitary tumor types. Tumors in FIPA are larger and occur at a younger age than in patients with sporadic disease. This is an important point when considering undertaking molecular genetic studies for AIP mutations, which occur in a minority of those with FIPA (15%) and in half of those with familial acromegaly. Patients with a family history of pituitary tumors in the absence of MEN-1 or CNC should be actively considered for AIP testing. Patients with sporadic pituitary tumors should also be considered for AIP screening, particularly if they are young and have aggressive tumors. Genetic counseling of relatives of patients in FIPA families with AIP mutations is an area of particular importance that is made more difficult by uncertainty about the penetrance of disease. However, our findings, in addition to preliminary data from other groups, indicate that penetrance of pituitary tumors in those with AIP mutations in FIPA is high, exceeding 50%.[52]

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