Genetic susceptibility in pituitary adenomas: from pathogenesis to clinical implications

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.

Keywords::

• AIP
• aryl hydrocarbon receptor-interacting protein
• Carney complex
• familial isolated pituitary adenomas
• FIPA
• genetic screening
• hereditary neoplasia
• McCune–Albright syndrome
• MEN1
• multiple endocrine neoplasia type 1
• pituitary adenoma

Financial & competing interests disclosure

This work was partially supported by the Fonds d’Investissement pour la Recherche Scientifique du Centre Hospitalier de Liège (Belgium) and the Fondazione ‘Carlo Ferri’ per la prevenzione e la diagnosi precoce dei tumori, Monterotondo (Italy). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.