Key result
Genetic predisposition to pituitary adenomas should be considered in specific clinical settings, such as familial occurrence or in young patients (<30 years of age) presenting with macroadenomas.
This review highlights the clinical implications of genetic predisposition in pituitary adenomas and discusses the role of genetic screening in selected patients.
Supports targeted genetic evaluation in familial or young-onset macroadenoma cases; leaves open optimal screening protocols pending prospective data.
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.
No takes yet. Share an insight, caveat, or question.
Jaffrain‐Rea et al. (2011) conducted a review in Pituitary adenomas. Genetic susceptibility was evaluated. Genetic predisposition to pituitary adenomas should be considered in specific clinical settings, such as familial occurrence or in young patients (<30 years of age) presenting with macroadenomas.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: