悪性傍神経節腫 [DS:H01510]

Favier J, Amar L, Gimenez-Roqueplo AP

Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.

Nat Rev Endocrinol 11:101-11 (2015)
DOI:10.1038/nrendo.2014.188

Favier J, Briere JJ, Strompf L, Amar L, Filali M, Jeunemaitre X, Rustin P, Gimenez-Roqueplo AP

Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency.

Horm Res 63:171-9 (2005)
DOI:10.1159/000084685

Hao HX, Khalimonchuk O, Schraders M, Dephoure N, Bayley JP, Kunst H, Devilee P, Cremers CW, Schiffman JD, Bentz BG, Gygi SP, Winge DR, Kremer H, Rutter J

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma.

Science 325:1139-42 (2009)
DOI:10.1126/science.1175689

Buffet A, Morin A, Castro-Vega LJ, Habarou F, Lussey-Lepoutre C, Letouze E, Lefebvre H, Guilhem I, Haissaguerre M, Raingeard I, Padilla-Girola M, Tran T, Tchara L, Bertherat J, Amar L, Ottolenghi C, Burnichon N, Gimenez-Roqueplo AP, Favier J

Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas.

Cancer Res 78:1914-1922 (2018)
DOI:10.1158/0008-5472.CAN-17-2463

Remacha L, Pirman D, Mahoney CE, Coloma J, Calsina B, Curras-Freixes M, Leton R, Torres-Perez R, Richter S, Pita G, Herraez B, Cianchetta G, Honrado E, Maestre L, Urioste M, Aller J, Garcia-Uriarte O, Galvez MA, Luque RM, Lahera M, Moreno-Rengel C, Eisenhofer G, Montero-Conde C, Rodriguez-Antona C, Llorca O, Smolen GA, Robledo M, Cascon A

Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.

Am J Hum Genet 104:651-664 (2019)
DOI:10.1016/j.ajhg.2019.02.017