|Publisher||American Association of Clinical Endocrinologists|
|ISSN||1530-891X (Print) |
|Subject||Health Services, Medical Sciences and Endocrinology|
|Online Date||Wednesday, May 25, 2011|
1Department of Endocrinology, University of Liège, Belgium
2Clinical Center of Endocrinology and Gerontology, Medical University, Sofia, Bulgaria
Objective: To summarize current knowledge on the clinical and genetic characteristics of familial pituitary tumor syndromes.
Methods: This review is based on comprehensive literature search through the English-language literature using "familial", "pituitary" "adenomas" and "tumors" as search terms.
Results: Familial pituitary tumors are rare and comprise approximately 5 % of all pituitary adenomas. Currently, there are four recognized inherited syndromes that involve pituitary tumorigenesis - multiple endocrine neoplasia type 1 (MEN 1) and type 4 (MEN 4), Carney complex and familial isolated pituitary adenomas (FIPA). MEN 1 and CNC have been known for several decades and their clinical and molecular characteristics have been comprehensively studied. Many familial cases of pituitary adenomas can be attributed to mutations in MEN1 and PRKAR1A genes. The recently defined MEN 4 is extremely rare. Familial pituitary tumors that are not associated with MEN 1 and CNC have been united under a new term introduced in the 1990's: FIPA. About 15-25% of FIPA patients harbor mutations in the AIP gene.
Conclusion: Although rare, familial pituitary tumors present an opportunity to study inherited molecular and genetic mechanisms of pituitary tumorigenesis. A comprehensive understanding of their characteristics may provide basis for better diagnosis and management of affected patients.