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Trends Endocrinol Metab. 2010 Jul;21(7):419-27. doi: 10.1016/j.tem.2010.02.007. Epub 2010 Jun 1.

Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA).

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Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK.


Familial pituitary adenomas can occur in MEN1 and Carney complex, as well as in the recently characterized familial isolated pituitary adenoma (FIPA) syndrome. FIPA is an autosomal dominant disease with incomplete penetrance, characterized by early-onset disease, often aggressive tumor growth and a predominance of somatotroph and lactotroph adenomas. In 20% of FIPA families, heterozygous mutations have been described in the aryl hydrocarbon receptor interacting (AIP) gene, whereas in other families the causative gene(s) are unknown. It has been suggested that AIP is a tumor suppressor gene and although experimental data support this hypothesis, the exact molecular mechanism by which its disruption leads to tumorigenesis is unclear. Here we discuss the clinical, genetic and molecular features of patients with FIPA.

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