Anterior pituitary adenomas: inherited syndromes, novel genes and molecular pathways

Expert Rev Endocrinol Metab. 2010 Sep 1;5(5):697-709. doi: 10.1586/eem.10.47.


Pituitary adenomas are common tumors. Although rarely malignant, pituitary adenomas cause significant morbidity due to mass effects and/or hormonal hypo- and/or hyper-secretion. Molecular understanding of pituitary adenoma formation is essential for the development of medical therapies and the treatment of post-operative recurrences. In general, mutations in genes involved in genetic syndromes associated with pituitary tumors are not a common finding in sporadic lesions. By contrast, multiple endocrine neoplasia type 1 (MEN-1) and aryl hydrocarbon receptor-interacting protein (AIP) mutations may be more frequent among specific subgroups of patients, such as children and young adults, with growth hormone-producing adenomas. In this article, we present the most recent data on the molecular pathogenesis of pituitary adenomas and discuss some of the most recent findings from our laboratory. Guidelines for genetic screening and clinical counseling of patients with pituitary tumors are provided.