High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 3, 2010, Pages 1318-1327

  Toledo, Rodrigo A ^a   Wagner, Simona M ^d   Coutinho, Flavia L ^a   Lourenço Jr , Delmar M ^a   Azevedo, Juliana A ^a   Longuini, Viviane C ^a   Reis, Mariana T A ^b   Siqueira, Sheila A C ^a   Lucon, Antonio M ^a   Tavares, Marcos R ^a   Fragoso, Maria C B V ^a   Pereira, Adelaide A ^a   Dahia, Patricia L M ^c   Mulligan, Lois M ^d   Toledo, Sergio P A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b HOSPITAL SANTA MARCELINA   (Brazil)

^c UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^d QUEEN S UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

(3 IODOBENZYL)GUANIDINE; DNA; PROTEIN RET;

ADULT; ARTICLE; CASE REPORT; CELL STRAIN HEK293; COMPUTER ASSISTED TOMOGRAPHY; DNA SEQUENCE; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HAPLOTYPE; HUMAN; HUMAN CELL; MULTIPLE ENDOCRINE NEOPLASIA; PEDIGREE ANALYSIS; PHEOCHROMOCYTOMA; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTO ONCOGENE; THYROID MEDULLARY CARCINOMA; TUMOR DIAGNOSIS; TUMOR SCINTISCANNING; WESTERN BLOTTING;

EID: 77749239884     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-1355     Document Type: Article

References (36)

1. Mulligan LM, Kwok JBJ, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A, Ponder BA 1993 Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363:458-460
2. Gagel RF, Tashjian Jr AH, Cummings T, Cummings T, Papathanasopoulos N, Kaplan MM, DeLellis RA, Wolfe HJ, Reichlin S 1988 The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a: an 18-year experience.NEngl J Med 318:478-484
3. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells Jr SA, Marx SJ 2001 Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86: 5658-5671
4. Margraf RL, Crockett DK, Krautscheid PM, Seamons R, Calderon FR, Wittwer CT, Mao R 2009 Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum Mutat 30:548-556
5. Weber F, Eng C 2005 Germline variants within RET: clinical utility or scientific playtoy? J Clin Endocrinol Metab 90:6334-6336
6. Baumgartner-Parzer SM, Lang R, Wagner L, Heinze G, Niederle B, Kaserer K, Waldhäusl W, Vierhapper H 2005 Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma? J Clin Endocrinol Metab 90:6232-6236
7. Nunes AB, Ezabella MC, Pereira AC, Krieger JE, Toledo SP 2002 A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. J Clin Endocrinol Metab 87:5658-5661
8. Tessitore A, Sinisi AA, Pasquali D, Cardone M, Vitale D, Bellastella A, Colantuoni V 1999 A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. J Clin Endocrinol Metab 84:3522-3527
9. Bartsch DK, Hasse C, Schug C, Barth P, Rothmund M, Höppner W 2000 A RET double mutation in the germline of a kindred with FMTC. Exp Clin Endocrinol Diabetes 108:128-132
10. Menko FH, van der Luijt RB, de Valk IA, Toorians AW, Sepers JM, van Diest PJ, Lips CJ 2002 Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. J Clin Endocrinol Metab 87:393-397
11. Kitamura Y, Scavarda N, Wells Jr SA, Jackson CE, Goodfellow PJ 1995 Two maternally derived missense mutations in the tyrosine kinase domain of the RET protooncogene in a patient with de novo MEN 2B. Hum Mol Genet 4:1987-1988
12. Mendonça BB, Arnhold IJ, Nicolau W, Avancini VA, Bloise W 1988 Cushing's syndrome due to ectopic ACTH secretion by bilateral pheochromocytomas in multiple endocrine neoplasia type 2A. N Engl J Med 319:1610-1611
13. Miyauchi A, Futami H, Hai N, Yokozawa T, Kuma K, Aoki N, Kosugi S, Sugano K, Yamaguchi K 1999 Two germline missense mutations at codons 804 and 806 of the RET protooncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation. Jpn J Cancer Res 90:1-5
14. Iwashita T, Murakami H, Kurokawa K, Kawai K, Miyauchi A, Futami H, Qiao S, Ichihara M, Takahashi M 2000 A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations. Biochem Biophys Res Commun 268:804-808
15. Toledo SP, dos Santos MA, Toledo RA, Lourenço Jr DM 2006 Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. Clinics (Sao Paulo) 61:59-70
16. Correia-Deur JE, Toledo RA, Imazawa AT, Lourenço Jr DM, Ezabella MC, Tavares MR, Toledo SP 2009 Sporadic medullary thyroid carcinoma: clinical data from a university hospital. Clinics (Sao Paulo) 64:379-386
17. Santos MA, Quedas EP, Toledo Rde A, Lourenço Jr DM, Toledo SP 2007 Screening of RET gene mutations in multiple endocrine neoplasia type-2 using conformation sensitive gel electrophoresis (CSGE). Arq Bras Endocrinol Metab 51:1468-1476
18. Lourenço Jr DM, Toledo RA, Mackowiak II, Coutinho FL, Cavalcanti MG, Correia-Deur JE, Montenegro F, Siqueira SA, Margarido LC, Machado MC, Toledo SP 2008 Multiple endocrine neoplasia type 1 in Brazil:MEN1founding mutation, clinical features, and bone mineral density profile. Eur J Endocrinol 159:259-274
19. Lourenço Jr DM, Toledo RA, Coutinho FL, Margarido LC, Siqueira SA, dos Santos MA, Montenegro FL, Machado MC, Toledo SP 2007 The impact of clinical and genetic screenings on the management of the multiple endocrine neoplasia type 1. Clinics (Sao Paulo) 62:465-476
20. Toledo RA, Lourenco DM, Coutinho FL, Quedas E, Mackowiack I, Machado MC, Montenegro F, Cunha-Neto MB, Liberman B, Pereira MA, Correa PH, Toledo SP 2007 Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf) 67:377-384
21. Gujral TS, Singh VK, Jia Z, Mulligan LM 2006 Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B. Cancer Res 66:10741-10749
22. Richardson DS, Lai AZ, Mulligan LM 2006 RET ligand-induced internalization and its consequences for downstream signaling. Oncogene 25:3206-3211
23. Hickey JG, Myers SM, Tian X, Zhu SJ, V Shaw JL, Andrew SD, Richardson DS, Brettschneider J, Mulligan LM 2009 RET-mediated gene expression pattern is affected by isoform but not oncogenic mutation. Genes Chromosomes Cancer 48:429-440
24. Myers SM, Mulligan LM 2004 The RET receptor is linked to stress response pathways. Cancer Res 64:4453-4463
25. Mulligan LM, Eng C, Healey CS, Clayton D, Kwok JB, Gardner E, Ponder MA, Frilling A, Jackson CE, Lehnert H 1994 Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 6:70-74
26. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjöld M, Komminoth P, Hendy GN, Mulligan LM 1996 The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276:1575-1579
27. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Höppner W 1998 A new hot spot for mutations in the RET protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 83:770-774
28. Arum SM, Dahia PL, Schneider K, Braverman LE 2005 A RET mutation with decrease penetrance in the family of a patient with "sporadic" pheochromocytoma. Endocrine 28:193-198
29. Tamanaha R, Camacho CP, Ikejiri ES, Maciel RM, Cerutti JM 2007 Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: evaluation of phenotype-modifying effect of germline variants. Clin Endocrinol (Oxf) 67:806-808
30. Machens A, Dralle H 2008 Familial prevalence and age of RET germline mutations: implications for screening. Clin Endocrinol (Oxf) 69:81-87
31. Frank-Raue K, Machens A, Scheuba C, Niederle B, Dralle H, Raue F; German MEN2 Study Group 2008 Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791. Clin Endocrinol (Oxf) 69:259-263
32. Dahia PL, Hao K, Rogus J, Colin C, Pujana MA, Ross K, Magoffin D, Aronin N, Cascon A, Hayashida CY, Li C, Toledo SP, Stiles CD 2005 Familial Pheochromocytoma Consortium. Novel pheochromocytoma susceptibility loci identified by integrative genomics. Cancer Res. 65:9651-9658
33. 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 90:3999-4003
34. Milos IN, Frank-Raue K, Wohllk N, Maia AL, Pusiol E, Patocs A, Robledo M, Biarnes J, Barontini M, Links TP, de Groot JW, Dvorakova S, Peczkowska M, Rybicki LA, Sullivan M, Raue F, Zosin I, Eng C, Neumann HP 2008 Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp(TGC>TGG) mutation. Endocr Relat Cancer 15:1035-1041
35. 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 2002 Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466
36. Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimäki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C, Neumann HP 11 November 2009 Pathogenicity of DNA Variants and Double Mutations in Multiple Endocrine Neoplasia Type 2 and Von Hippel-Lindau Syndrome. J Clin Endocrinol Metab 10.1210/ jc.2009-1728