Pituitary tumors associated with endocrine neoplasia syndromes

Pituitary adenomas with a genetic predisposition account for approximately 5% of all pituitary adenomas and the most frequent presentation is as familial isolated pituitary adenomas (FIPA). However, pituitary adenomas can occur in syndromic conditions that include several other endocrine and non-endocrine disorders. Among the multi-organ inherited or genetic forms of PAs the most frequent and best known are multiple endocrine neoplasia type 1 (MEN1) syndrome, Carney complex (CNC), and McCune–Albright syndrome (MAS), which are due to mutations in MEN1, PRKAR1A, and GNAS, respectively. Other less frequent syndromic presentations of PAs that occur in the setting of MEN4, 3PAs, MEN5, and DICER1 syndrome (caused by mutations in CDKN1B, SDHx, MAX, and DICER1 genes, respectively) have also been described.
The recent identification of genetic and genomic causes of many of these conditions has led to a better understanding of the pathophysiology of PAs and their patterns of inheritance. Familial context and genetic status are important aspects of the investigation of patients with pituitary adenomas that can contribute significantly to the diagnosis and the management
of endocrine tumor syndromes.