Genetic Testing in Pituitary Adenomas: What, How, and In Whom?

Abstract

Recibido el 4 de enero de 2019; aceptado el 10 de enero de 2019 Clinically diagnosed pituitary adenomas have a prevalence of approximately 1 per 1000 in the general population in Europe and are therefore encountered regularly by clinical endocrinologists in everyday practice 1. Currently, it is believed that most pituitary adenomas arise from a clonal expansion derived from a somatic mutation in a single cell. For instance, a somatic mutation in GNAS is found in up to 40% of somatotropinomas in patients with acromegaly, while somatic USP8 mutations are now known to account for many cases of Cushing's disease 2,3. Such pituitary level mutations are only discovered post hoc following tumor resection, cannot readily be predicted in advance and are not inheritable. Germline mutations in genes associated with pituitary adenomas are quite rare, and overall, pituitary adenomas occurring in an inheritable or familial setting account for about 5% of cases 4. As they are rare, generalized screening of pituitary adenoma patient populations to identify genetic mutation carriers is not currently a scientifically or economically valid approach. Most of these genetic causes are associated with a clinical presentation that differs from other pituitary adenomas, and these characteristics can be used to refine screening significantly. In general, when considering genetic analyses in pituitary adenoma patients a good first step is to determine if the