Endocrine Abstracts (2019) 65 PL3 | DOI: 10.1530/endoabs.65.PL3

From Carney complex to gigantism and Cushing disease: an insight into the genetics of pituitary tumors

Constantine Stratakis


Section on Endocrinology and Genetics (SEGEN), Eunice Kennedy Shrive National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, Maryland, USA


In the last 30 years, an unprecedented production of new knowledge about the tumors of the pituitary gland has led to a series of new discoveries important for the understanding of how these neoplasms form and the management of our patients. These tumors are often caused by germline or somatic mutations in an ever expanding list of genes; a growing list of genetic defects associated with inherited predisposition to pituitary tumors means implications for the families of the patients, too. We present some of the newest data on PRKAR1A (Carney complex), AIP (FIPA), Menin (MEN1), succinate dehydrogenase (SDH-3PAS), GPR101 (XLAG) and other defects causing pituitary adenomas, including unpublished data on the genetics of Cushing disease that we have obtained recently in our laboratory at the US-based National Institutes of Health.

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