title: 15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas.
abstract: The combination of pituitary adenomas (PA) and phaeochromocytomas (phaeo) or paragangliomas (PGL) is a rare event. Although these endocrine tumours may occur together by coincidence, there is mounting evidence that, in at least some cases, classical phaeo/PGL-predisposing genes may also play a role in pituitary tumorigenesis. A new condition that we termed '3Pas' for the association of PA with phaeo and/or PGL was recently described in patients with succinate dehydrogenase mutations and PAs. It should also be noted that the classical tumour suppressor gene, MEN1 that is the archetype of the PA-predisposing genes, is also rarely associated with phaeos in both mice and humans with MEN1 defects. In this report, we review the data leading to the discovery of 3PAs, other associations linking PAs with phaeos and/or PGLs, and the corresponding clinical and molecular genetics.
authors.affiliation: Department of EndocrinologyBarts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UKHereditary Endocrine Cancer GroupSpanish National Cancer Center, Madrid and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, SpainSection on Endocrinology and Genetics Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Samuel M
authors.initials: SM
authors.lastname: O'Toole
authors.affiliation: Department of EndocrinologyBarts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UKHereditary Endocrine Cancer GroupSpanish National Cancer Center, Madrid and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, SpainSection on Endocrinology and Genetics Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Judit
authors.initials: J
authors.lastname: Dénes
authors.affiliation: Department of EndocrinologyBarts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UKHereditary Endocrine Cancer GroupSpanish National Cancer Center, Madrid and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, SpainSection on Endocrinology and Genetics Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Mercedes
authors.initials: M
authors.lastname: Robledo
authors.affiliation: Department of EndocrinologyBarts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UKHereditary Endocrine Cancer GroupSpanish National Cancer Center, Madrid and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, SpainSection on Endocrinology and Genetics Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
authors.affiliation: Department of EndocrinologyBarts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UKHereditary Endocrine Cancer GroupSpanish National Cancer Center, Madrid and ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, SpainSection on Endocrinology and Genetics Eunice Kennedy Shriver Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA m.korbonits@qmul.ac.uk.
authors.forename: Márta
authors.initials: M
authors.lastname: Korbonits
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000818:Animals; D006801:Humans; D010235:Paraganglioma / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D010911:Pituitary Neoplasms / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*
chemical_list: D013385:Succinate Dehydrogenase
keywords: SDH; paraganglioma; pathogenesis; phaeochromocytoma; pituitary