Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms
- Carole Guerin1,
- Pauline Romanet2,
- David Taieb3,
- Thierry Brue4,
- André Lacroix5,
- Frederic Sebag1,
- Anne Barlier2 and
- Frederic Castinetti4⇑
- 1Department of Endocrine Surgery, Aix Marseille University, Assistance Publique Hopitaux de Marseille, La Conception Hospital, Marseille, France
- 2Department of Molecular Biology, Aix Marseille University, CNRS UMR 7286, Assistance Publique Hopitaux de Marseille, La Conception Hospital, Marseille, France
- 3Department of Nuclear Medicine, Aix Marseille University, Assistance Publique Hopitaux de Marseille, La Timone Hospital, Marseille, France
- 4Department of Endocrinology, Aix Marseille University, CNRS UMR7286, Assistance Publique Hopitaux de Marseille, La Conception Hospital, Marseille, France
- 5Endocrine Division, Department of Medicine, Centre hospitalier de l’Université de Montréal, Montreal, Quebec, Canada
- Correspondence should be addressed to F Castinetti: frederic.castinetti{at}ap-hm.fr
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Figure 1
Simplified overview of main genes and pathways involved in PHEO/PGL. Blue boxes, tumor suppressor genes involved in hereditary PHEO/PGL; red boxes, proto-oncogenes involved in hereditary PHEO/PGL; black arrows, simplified Krebs cycle; orange arrows, inhibition effect; dotted arrows, not well-established mechanism; green arrows, stimulating effect. AKT, RAC-alpha serine/threonine-protein kinase; ERK/MAPK1, mitogen-activated protein kinase 1; FH, fumarate hydratase; HIF1α, hypoxia-inducible factor 1 alpha subunit; HIF1β, hypoxia-inducible factor 1 beta subunit; HIF2α/EPAS1, endothelial PAS domain protein 1; IDH, isocitrate dehydrogenase; MAPK pathway, mitogen-activated protein kinase pathway; MAX, MYC-associated factor X; MDH2, malate dehydrogenase 2; mTOR, mammalian target of rapamycin; MYC, MYC proto-oncogene; NF1, neurofibromin 1; PHD/EGLN 1, 2, 3, prolyl hydroxylase domain protein/egl-9 family hypoxia-inducible factor 1, 2, 3; PI3K, phosphatidyIinositol-4,5-bisphosphate 3-kinase; RAS, rat aarcoma oncogene; RET, rearranged during transfection proto-oncogene; SDH, succinate dehydrogenase complex; TMEM127, transmembrane protein 127; VHL, Von Hippel-Lindau tumor suppressor. Data from Dahlia (2014).
- © 2018 Society for Endocrinology
