Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures called paraganglia.
genetic conditions
References
Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E,Jeunemaitre X, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J,Gimenez-Roqueplo AP. SDHA is a tumor suppressor gene causing paraganglioma. HumMol Genet. 2010 Aug 1;19(15):3011-20. doi: 10.1093/hmg/ddq206.
Burnichon N, Vescovo L, Amar L, Libé R, de Reynies A, Venisse A, Jouanno E,Laurendeau I, Parfait B, Bertherat J, Plouin PF, Jeunemaitre X, Favier J,Gimenez-Roqueplo AP. Integrative genomic analysis reveals somatic mutations inpheochromocytoma and paraganglioma. Hum Mol Genet. 2011 Oct 15;20(20):3974-85.doi: 10.1093/hmg/ddr324.
Crona J, Taïeb D, Pacak K. New Perspectives on Pheochromocytoma andParaganglioma: Toward a Molecular Classification. Endocr Rev. 2017 Dec1;38(6):489-515. doi: 10.1210/er.2017-00062. Review.
Korpershoek E, Favier J, Gaal J, Burnichon N, van Gessel B, Oudijk L, Badoual C, Gadessaud N, Venisse A, Bayley JP, van Dooren MF, de Herder WW, Tissier F,Plouin PF, van Nederveen FH, Dinjens WN, Gimenez-Roqueplo AP, de Krijger RR. SDHAimmunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J Clin Endocrinol Metab. 2011Sep;96(9):E1472-6. doi: 10.1210/jc.2011-1043.
Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, Franke G, Schipper J,Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith WM, Munk R, Manz T,Glaesker S, Apel TW, Treier M, Reineke M, Walz MK, Hoang-Vu C, Brauckhoff M,Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peçzkowska M, Szmigielski C,Eng C; Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. Germ-line mutationsin nonsyndromic pheochromocytoma. N Engl J Med. 2002 May 9;346(19):1459-66.
Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, BertzH, Walz MK, Moeller LC, Schmid KW, Eng C. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites.J Clin Endocrinol Metab. 2011 Aug;96(8):E1279-82. doi: 10.1210/jc.2011-0114.
Opocher G, Schiavi F. Genetics of pheochromocytomas and paragangliomas. BestPract Res Clin Endocrinol Metab. 2010 Dec;24(6):943-56. doi:10.1016/j.beem.2010.05.001. Review.
Qin Y, Buddavarapu K, Dahia PL. Pheochromocytomas: from genetic diversity tonew paradigms. Horm Metab Res. 2009 Sep;41(9):664-71. doi:10.1055/s-0029-1215590.
Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, Lechleiter JD,Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo RA, Toledo SP, Stiles C, Aguiar RC, Dahia PL. Germline mutations in TMEM127 confer susceptibility topheochromocytoma. Nat Genet. 2010 Mar;42(3):229-33. doi: 10.1038/ng.533.
Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, Toledo RA,Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacchè M, Mendola A, Taschin E,Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, BexM, Vikkula M, Grossman AB, Gruber SB, Barontini M, Persu A, Castellano M, Toledo SP, Maher ER, Mannelli M, Opocher G, Robledo M, Dahia PL. Spectrum and prevalenceof FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA. 2010 Dec 15;304(23):2611-9. doi: 10.1001/jama.2010.1830.
Contributor
MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register
: Rita Xu
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?