Sàng lọc đột biến trong một nhóm bệnh nhân pheochromocytoma tại Na Uy

Pacak K, Eisenhofer G, Ahlman H, Bornstein SR, Gimenez-Roqueplo AP, Grossman AB, Kimura N, Mannelli M, McNicol AM, Tischler AS (2007) Pheochromocytoma: recommendations for clinical practice from the first international symposium October 2005. Nat Clin Pract Endocrinol Metab 3(2):92–102. doi:10.1038/ncpendmet0396 Parenti G, Zampetti B, Rapizzi E, Ercolino T, Giache V, Mannelli M (2012) Updated and new perspectives on diagnosis, prognosis, and therapy of malignant pheochromocytoma/paraganglioma. J Oncol 2012:872713. doi:10.1155/2012/872713 Bulow B, Jansson S, Juhlin C, Steen L, Thoren M, Wahrenberg H, Valdemarsson S, Wangberg B, Ahren B (2006) Adrenal incidentaloma—follow-up results from a Swedish prospective study. Eur J Endocrinol 154(3):419–423. doi:10.1530/eje.1.02110 Sutton MG, Sheps SG, Lie JT (1981) Prevalence of clinically unsuspected pheochromocytoma. Review of a 50-year autopsy series. Mayo Clin Proc 56(6):354–360 Platts JK, Drew PJ, Harvey JN (1995) Death from phaeochromocytoma: lessons from a post-mortem survey. J R Coll Physicians Lond 29(4):299–306 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, Peczkowska M, Szmigielski C (2002) Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346(19):1459–1466. doi:10.1056/NEJMoa020152 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 (2011) SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J Clin Endocrinol Metab 96(9):E1472–E1476. doi:10.1210/jc.2011-1043 Bayley JP, Kunst HP, Cascon A, Sampietro ML, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers HJ, Hoefsloot LH, Hermsen MA, Suarez C, Hussain AK, Vriends AH, Hes FJ, Jansen JC, Tops CM, Corssmit EP, de Knijff P, Lenders JW, Cremers CW, Devilee P, Dinjens WN, de Krijger RR, Robledo M (2010) SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 11(4):366–372. doi:10.1016/S1470-2045(10)70007-3 Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Perez L, King EE, Toledo RA, Ercolino T, Rapizzi E, Ricketts CJ, Mori L, Giacche M, Mendola A, Taschin E, Boaretto F, Loli P, Iacobone M, Rossi GP, Biondi B, Lima-Junior JV, Kater CE, Bex M, 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 prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA 304:23 2611–2619. doi:10.1001/jama.2010.1830 Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, Landa I, Leandro-Garcia LJ, Leton R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gomez-Grana A, de Cubas AA, Inglada-Perez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernandez-Lavado R, Diaz JA, Gomez-Morales M, Gonzalez-Neira A, Roncador G, Rodriguez-Antona C, Benitez J, Mannelli M, Opocher G, Robledo M, Cascon A (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43(7):663–667. doi:10.1038/ng.861 Opocher G, Schiavi F (2010) Genetics of pheochromocytomas and paragangliomas. Best Pract Res Clin Endocrinol Metab 24(6):943–956. doi:10.1016/j.beem.2010.05.001 Gimm O, DeMicco C, Perren A, Giammarile F, Walz MK, Brunaud L (2012) Malignant pheochromocytomas and paragangliomas: a diagnostic challenge. Langenbecks Arch Surg 397(2):155–177. doi:10.1007/s00423-011-0880-x Gimenez-Roqueplo AP, Favier J, Rustin P, Rieubland C, Crespin M, Nau V, Khau Van Kien P, Corvol P, Plouin PF, Jeunemaitre X (2003) Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res 63(17):5615–5621 Gill AJ, Benn DE, Chou A, Clarkson A, Muljono A, Meyer-Rochow GY, Richardson AL, Sidhu SB, Robinson BG, Clifton-Bligh RJ (2010) Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. Hum Pathol 41(6):805–814. doi:10.1016/j.humpath.2009.12.005 Kytola S, Nord B, Elder EE, Carling T, Kjellman M, Cedermark B, Juhlin C, Hoog A, Isola J, Larsson C (2002) Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas. Genes Chromosomes Cancer 34(3):325–332. doi:10.1002/gcc.10081 Cascon A, Ruiz-Llorente S, Cebrian A, Leton R, Telleria D, Benitez J, Robledo M (2003) G12S and H50R variations are polymorphisms in the SDHD gene. Genes Chromosomes Cancer 37(2):220–221. doi:10.1002/gcc.10212 Lima J, Maximo V, Soares P, Sobrinho-Simoes M (2003) Alterations of the SDHD gene locus in midgut carcinoids. Genes Chromosomes Cancer 36(4):424. doi:10.1002/gcc.10147 Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, Maher ER, Plouin PF (2006) Phaeochromocytoma, new genes and screening strategies. Clin Endocrinol (Oxf) 65(6):699–705. doi:10.1111/j.1365-2265.2006.02714.x Kim L, Holland AJ, Srinivasan S, Cowell CT, Benn DE, Robinson BG (2008) Paediatric bilateral adrenal phaeochromocytomas in association with a novel mutation in the von Hippel Lindau gene. J Paediatr Child Health 44(9):514–516. doi:10.1111/j.1440-1754.2008.01360.x Dollfus H, Massin P, Taupin P, Nemeth C, Amara S, Giraud S, Beroud C, Dureau P, Gaudric A, Landais P, Richard S (2002) Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Invest Ophthalmol Vis Sci 43(9):3067–3074 Maxwell PH, Wiesener MS, Chang GW, Clifford SC, Vaux EC, Cockman ME, Wykoff CC, Pugh CW, Maher ER, Ratcliffe PJ (1999) The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature 399(6733):271–275. doi:10.1038/20459 Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, Chew SL, Dahia PL, O’Riordan JL, Toledo SP et al (1995) Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet 32(12):934–937 Hoffman MA, Ohh M, Yang H, Klco JM, Ivan M, Kaelin WG Jr (2001) von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF. Hum Mol Genet 10(10):1019–1027 Maertens O, Brems H, Vandesompele J, De Raedt T, Heyns I, Rosenbaum T, De Schepper S, De Paepe A, Mortier G, Janssens S, Speleman F, Legius E, Messiaen L (2006) Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. Hum Mutat 27(10):1030–1040. doi:10.1002/humu.20389 Bausch B, Borozdin W, Mautner VF, Hoffmann MM, Boehm D, Robledo M, Cascon A, Harenberg T, Schiavi F, Pawlu C, Peczkowska M, Letizia C, Calvieri S, Arnaldi G, Klingenberg-Noftz RD, Reisch N, Fassina A, Brunaud L, Walter MA, Mannelli M, MacGregor G, Palazzo FF, Barontini M, Walz MK, Kremens B, Brabant G, Pfaffle R, Koschker AC, Lohoefner F, Mohaupt M, Gimm O, Jarzab B, McWhinney SR, Opocher G, Januszewicz A, Kohlhase J, Eng C, Neumann HP (2007) Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab 92(7):2784–2792. doi:10.1210/jc.2006-2833 Maynard J, Krawczak M, Upadhyaya M (1997) Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. Hum Genet 99(5):674–676 Neumann HP, Erlic Z, Boedeker CC, Rybicki LA, Robledo M, Hermsen M, Schiavi F, Falcioni M, Kwok P, Bauters C, Lampe K, Fischer M, Edelman E, Benn DE, Robinson BG, Wiegand S, Rasp G, Stuck BA, Hoffmann MM, Sullivan M, Sevilla MA, Weiss MM, Peczkowska M, Kubaszek A, Pigny P, Ward RL, Learoyd D, Croxson M, Zabolotny D, Yaremchuk S, Draf W, Muresan M, Lorenz RR, Knipping S, Strohm M, Dyckhoff G, Matthias C, Reisch N, Preuss SF, Esser D, Walter MA, Kaftan H, Stover T, Fottner C, Gorgulla H, Malekpour M, Zarandy MM, Schipper J, Brase C, Glien A, Kuhnemund M, Koscielny S, Schwerdtfeger P, Valimaki M, Szyfter W, Finckh U, Zerres K, Cascon A, Opocher G, Ridder GJ, Januszewicz A, Suarez C, Eng C (2009) Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res 69(8):3650–3656. doi:10.1158/0008-5472.CAN-08-4057 Piccini V, Rapizzi E, Bacca A, Di Trapani G, Pulli R, Giache V, Zampetti B, Lucci-Cordisco E, Canu L, Corsini E, Faggiano A, Deiana L, Carrara D, Tantardini V, Mariotti S, Ambrosio MR, Zatelli MC, Parenti G, Colao A, Pratesi C, Bernini G, Ercolino T, Mannelli M (2012) Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. Endocr Relat Cancer 19(2):149–155. doi:10.1530/ERC-11-0369 Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L et al (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363(6428):458–460. doi:10.1038/363458a0 Landsvater RM, Jansen RP, Hofstra RM, Buys CH, Lips CJ, Ploos van Amstel HK (1996) Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A. Hum Genet 97(1):11–14 Machens A, Brauckhoff M, Holzhausen HJ, Thanh PN, Lehnert H, Dralle H (2005) Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 90(7):3999–4003. doi:10.1210/jc.2005-0064 Plaza-Menacho I, Burzynski GM, de Groot JW, Eggen BJ, Hofstra RM (2006) Current concepts in RET-related genetics, signaling and therapeutics. Trends Genet 22(11):627–636. doi:10.1016/j.tig.2006.09.005 Niemann S, Muller U (2000) Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 26(3):268–270. doi:10.1038/81551 Peczkowska M, Cascon A, Prejbisz A, Kubaszek A, Cwikla BJ, Furmanek M, Erlic Z, Eng C, Januszewicz A, Neumann HP (2008) Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation. Nat Clin Pract Endocrinol Metab 4(2):111–115. doi:10.1038/ncpendmet0726 Welander J, Soderkvist P, Gimm O (2011) Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 18(6):R253–R276. doi:10.1530/ERC-11-0170 Karasek D, Shah U, Frysak Z, Stratakis C, Pacak K (2012) An update on the genetics of pheochromocytoma. J Hum Hypertens. doi:10.1038/jhh.2012.20