Sunita M C De Sousa, Cynthia L Andoniadou, Adrian F Daly, Mônica Gadelha, Federico Gatto, Peter Kamenický, Pedro Marques, Martin Reincke, Frederique Ruf-Zamojski, Roberto Salvatori, Yutaka Takahashi, Christina Tatsi, Takako Araki, Sabrina Chiloiro, Laura Dichtel, Adriana G Ioachimescu, Susana Mallea-Gil, Dan A Niculescu, Alberto M Pereira, Ilan Shimon, John Wass, Gabriel Zada, Maria Fleseriu, Shlomo Melmed
Genetic testing of patients with pituitary adenomas enables delivery of genotype-based precision care. Germline testing might identify variants predisposing to formation of pituitary adenomas and, potentially, other neoplasms. These include loss-of-function variants in AIP, MEN1, CDKN1B, PRKAR1A, SDHA, SDHB, SDHC, SDHD and MAX; GPR101-containing Xq26.3 microduplications; and postzygotic gain-of-function GNAS variants. Somatic testing might help identify and manage aggressive pituitary adenoma types and very rarely encountered pituitary carcinomas. This Pituitary Society Consensus Statement provides evidence-based guidance on the clinical application of these genetic tests, focusing on germline genetic testing, with recommendations regarding genes for inclusion in panel testing, test indications, pre-test counselling, test methodologies, and the interpretation and follow-up of results. As somatic genetic testing is gradually becoming available in clinical practice, recommendations are provided regarding clinical scenarios in which somatic testing might be considered and which genes to test. The consensus group concluded that genetic testing is an increasingly valuable adjunct in the assessment and management of people with pituitary adenomas. When indicated, genetic testing should ideally be undertaken within a multidisciplinary team comprising endocrine, genetic and laboratory expertise to ensure high-quality testing and safe and effective result interpretation and follow-up.