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Updated: Feb 4, 2026

Three-dimensional Alginate-bead Culture of Human Pituitary Adenoma Cells
Published on: February 18, 2016
Genetic susceptibility in pituitary adenomas: from pathogenesis to clinical implications
Marie-Lise Jaffrain-Rea1,2,3, Adrian F Daly4, Mariolina Angelini1
1a University of L'Aquila, via Vetoio, Coppito 2, 67100 L'Aquila, Italy.
Abstract:
Pituitary adenomas usually present sporadically, with a multifactorial pathogenesis including somatic mutational events in cancer-related genes. Genetic predisposition implies the presence of germline DNA alterations with a range of impacts on pituitary cell biology, translating into a variable penetrance of the disease. Genetic causes must be considered in the presence of specific clinical settings, such as familial occurrence of pituitary adenoma, with or without extrapituitary diseases, and may also be suspected in young patients (<30 years of age) with macroadenomas. We review the clinical implications of genetic predisposition, with special attention on multiple endocrine neoplasia type 1, Carney complex and familial isolated pituitary adenoma. Genetic screening in selected patients with an apparently sporadic disease is also discussed.
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