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15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas

Samuel M O'Toole

Samuel M O'Toole Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Judit Dénes

Judit Dénes Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Mercedes Robledo

Mercedes Robledo Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Constantine A Stratakis

Constantine A Stratakis Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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Márta Korbonits

Márta Korbonits Department of Endocrinology, Hereditary Endocrine Cancer Group, Section on Endocrinology and Genetics, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, UK

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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.