He reditary medullary thyroid carcinoma: The management dilemma

Familial Cancer

Volumn 11, Issue 2, 2012, Pages 157-165

  Zhou, Ping ^a   Liu, Jian ^b   Cheng, Shao Wen ^c   Wang, Bing ^a   Yang, Rong ^a   Peng, Ling ^a  

^a ZHEJIANG UNIVERSITY   (China)

^b Hangzhou Hospital of Traditional Chinese Medicine   (China)

^c HAINAN MEDICAL UNIVERSITY   (China)

Author keywords

Hereditary medullary thyroid carcinoma; Management; Mutation; Prophylactic thyroidectomy; RET proto oncogene

Indexed keywords

PROTEIN RET;

CANCER STAGING; FAMILIAL CANCER; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE; GROUPS BY AGE; HUMAN; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTO ONCOGENE; RARE DISEASE; REVIEW; RISK FACTOR; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY; ADULT; AGE; AGED; GENETIC ASSOCIATION; GENETICS; MEDULLARY CARCINOMA; MIDDLE AGED; MUTATION; PATHOLOGY; THYROID TUMOR;

ADULT; AGE FACTORS; AGED; CARCINOMA, MEDULLARY; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; HUMANS; MIDDLE AGED; MUTATION; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS; THYROIDECTOMY;

EID: 84864685979     PISSN: 13899600     EISSN: 15737292     Source Type: Journal    
DOI: 10.1007/s10689-011-9501-7     Document Type: Review

References (61)

1. Clark OH, Kebebew E, Ituarte PHG, Siperstein AE, Duh QY (2000) Medullary thyroid carcinoma-clinical characteristics, treatment, prognostic factors, and a comparison of staging systems. Cancer 88(5):1139-1148
2. Hazard JB, Hawk WA, Crile G Jr (1959) Medullary (solid) carcinoma of the thyroid; a clinicopathologic entity. J Clin Endocrinol Metab 19(1):152-161
3. Machens A, Niccoli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, Wahl RA, Lamesch P, Raue F, Conte-Devolx B, Dralle H (2003) Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med 349(16): 1517-1525. doi:10.1056/NEJMoa012915
4. Jemal A, Tiwari RC, Murray T, Ghafoor A, Samuels A, Ward E, Feuer EJ, Thun MJ (2004) Cancer statistics, 2004. CA Cancer J Clin 54(1):8-29
5. 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, Nordenskjold M, Komminoth P, Hendy GN, Mulligan LM et al (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(19): 1575-1579
6. 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:10.1038/3634 58a0
7. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA Jr (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2(7):851-856
8. Eng C, Smith DP, Mulligan LM, Nagai MA, Healey CS, Ponder MA, Gardner E, Scheumann GF, Jackson CE, Tunnacliffe A et al (1994) Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 3(2):237-241
9. 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(4):548-556. doi:10.1002/ humu.20928
10. Peppa M, Boutati E, Kamakari S, Pikounis V, Peros G, Panayiotides IG, Economopoulos T, Raptis SA, Hadjidakis D (2008) Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene. Eur J Endocrinol 159(6):767-771. doi:10.1530/eje-08-0476
11. Kaldrymides P, Mytakidis N, Anagnostopoulos T, Vassiliou M, Tertipi A, Zahariou M, Rampias T, Koutsodontis G, Konstantopoulou I, Ladopoulou A, Bei T, Yannoukakos D (2006) A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening. Clin Endocrinol (Oxf) 64(5):561-566. doi:10.1111/j.1365-2265. 2006.02509.x
12. Gimm O, Marsh DJ, Andrew SD, Frilling A, Dahia PL, Mulligan LM, Zajac JD, Robinson BG, Eng C (1997) Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation. J Clin Endocrinol Metab 82(11):3902-3904
13. Cranston AN, Carniti C, Oakhill K, Radzio-Andzelm E, Stone EA, McCallion AS, Hodgson S, Clarke S, Mondellini P, Leyland J, Pierotti MA, Whittaker J, Taylor SS, Bongarzone I, Ponder BA (2006) RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B. Cancer Res 66(20):10179-10187. doi:10.1158/0008- 5472.can-06-0884
14. 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 proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation. Jpn J Cancer Res 90(1):1-5
15. 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(3): 804-808. doi:10.1006/bbrc.2000.2227
16. Frank-Raue K, Hoppner W, Frilling A, Kotzerke J, Dralle H, Haase R, Mann K, Seif F, Kirchner R, Rendl J, Deckart HF, Ritter MM, Hampel R, Klempa J, Scholz GH, Raue F (1996) Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group. J Clin Endocrinol Metab 81(5):1780-1783
17. Yip L, Cote GJ, Shapiro SE, Ayers GD, Herzog CE, Sellin RV, Sherman SI, Gagel RF, Lee JE, Evans DB (2003) Multiple endocrine neoplasia type 2: Evaluation of the genotype-phenotype relationship. Arch Surg 138(4):409-416. doi:10.1001/archsurg. 138.4.409 discussion 416
18. Frank-Raue K, Rondot S, Raue F (2010) Molecular genetics and phenomics of RET mutations: impact on prognosis of MTC. Mol Cell Endocrinol 322(1-2):2-7. doi:10.1016/j.mce.2010.01.012
19. Frank-Raue K, Rondot S, Schulze E, Raue F (2007) Change in the spectrum of RET mutations diagnosed between 1994 and 2006. Clin Lab 53(5-6):273-282
20. Frank-Raue K, Dohring J, Scheumann G, Rondot S, Lorenz A, Schulze E, Dralle H, Raue F, Leidig-Bruckner G (2010) New mutations in the RET protooncogene-L881 V-Associated with medullary thyroid carcinoma and-R770Q-in a patient with mixed medullar/follicular thyroid tumour. Exp Clin Endocrinol Diabetes 118(8):550-553. doi:10.1055/s-0029-1241851
21. Castellone MD, Verrienti A, Magendra Rao D, Sponziello M, Fabbro D, Muthu M, Durante C, Maranghi M, Damante G, Pizzolitto S, Costante G, Russo D, Santoro M, Filetti S (2010) A novel de novo germ-line V292 M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: Functional characterization. Clin Endocrinol (Oxf) 73(4):529-534. doi:10.1111/j.1365-2265.2009. 03757.x
22. Pazaitou-Panayiotou K, Giatzakis C, Koutsodontis G, Vratimos A, Chrisoulidou A, Konstantinidis T, Kamakari S (2010) Identification of two novel mutations in the RET proto-oncogene in the same family. Thyroid 20(4):401-406. doi:10.1089/thy.2009. 0262
23. Machens A, Dralle H (2008) Familial prevalence and age of RET germline mutations: implications for screening. Clin Endocrinol (Oxf) 69(1):81-87. doi:10.1111/j.1365-2265.2007.03153.x
24. Machens A, Lorenz K, Dralle H (2009) Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: Clinical opportunities. J Intern Med 266(1):114-125. doi:10.1111/ j.1365-2796.2009.02113.x
25. Romei C, Mariotti S, Fugazzola L, Taccaliti A, Pacini F, Opocher G, Mian C, Castellano M, degli Uberti E, Ceccherini I, Cremonini N, Seregni E, Orlandi F, Ferolla P, Puxeddu E, Giorgino F, Colao A, Loli P, Bondi F, Cosci B, Bottici V, Cappai A, Pinna G, Persani L, Verga U, Boscaro M, Castagna MG, Cappelli C, Zatelli MC, Faggiano A, Francia G, Brandi ML, Falchetti A, Pinchera A, Elisei R (2010) Multiple endocrine neoplasia type 2 syndromes (MEN 2): Results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes. Eur J Endocrinol 163(2):301-308. doi:10.1530/eje-10-0333
26. Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells SA Jr (2009) Medullary thyroid cancer: Management guidelines of the American Thyroid Association. Thyroid 19(6):565-612. doi: 10.1089/thy.2008.0403
27. Bugalho MJ, Domingues R, Santos JR, Catarino AL, Sobrinho L (2007) Mutation analysis of the RET proto-oncogene and early thyroidectomy: Results of a Portuguese cancer centre. Surgery 141(1):90-95. doi:10.1016/j.surg.2006.03.025
28. Wiench M, Wygoda Z, Gubala E, Wloch J, Lisowska K, Krassowski J, Scieglinska D, Fiszer-Kierzkowska A, Lange D, Kula D, Zeman M, Roskosz J, Kukulska A, Krawczyk Z, Jarzab B (2001) Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. J Clin Oncol 19(5): 1374-1380
29. Elisei R, Romei C, Cosci B, Agate L, Bottici V, Molinaro E, Sculli M, Miccoli P, Basolo F, Grasso L, Pacini F, Pinchera A (2007) RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocr Metab 92(12):4725-4729. doi:10.1210/Jc. 2007-1005
30. Allen SM, Bodenner D, Suen JY, Richter GT (2009) Diagnostic and surgical dilemmas in hereditary medullary thyroid carcinoma. Laryngoscope 119(7):1303-1311. doi:10.1002/lary.20299
31. Roman S, Lin R, Sosa JA (2006) Prognosis of medullary thyroid carcinoma-demographic, clinical, and pathologic predictors of survival in 1252 cases. Cancer 107(9):2134-2142. doi:10.1002/ Cncr.22244
32. Lau GS, Lang BH, Lo CY, Tso A, Garcia-Barcelo MM, Tam PK, Lam KS (2009) Prophylactic thyroidectomy in ethnic Chinese patients with multiple endocrine neoplasia type 2A syndrome after the introduction of genetic testing. Hong Kong Med J 15(5): 326-331
33. Punales MK, da Rocha AP, Meotti C, Gross JL, Maia AL (2008) Clinical and oncological features of children and young adults with multiple endocrine neoplasia type 2A. Thyroid 18(12): 1261-1268. doi:10.1089/thy.2007.0414
34. Spinelli C, Di Giacomo M, Costanzo S, Elisei R, Miccoli P (2010) Role of RET codonic mutations in the surgical management of medullary thyroid carcinoma in pediatric age multiple endocrine neoplasm type 2 syndromes. J Pediatr Surg 45(8):1610-1616. doi:10.1016/j.jpedsurg.2010.03.019
35. Frank-Raue K, Buhr H, Dralle H, Klar E, Senninger N, Weber T, Rondot S, Hoppner W, Raue F (2006) Long-Term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype. Eur J Endocrinol 155(2):229-236. doi:10.1530/eje.1. 02216
36. Skinner MA, Moley JA, Dilley WG, Owzar K, Debenedetti MK, Wells SA Jr (2005) Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 353(11):1105-1113. doi:10.1056/NEJMoa043999
37. Schellhaas E, Konig C, Frank-Raue K, Buhr HJ, Hotz HG (2009) Long-Term outcome of "prophylactic therapy" for familial medullary thyroid cancer. Surgery 146(5):906-912. doi:10.1016/ j.surg.2009.06.007
38. Ukkat J, Gimm O, Brauckhoff M, Bilkenroth U, Dralle H (2004) Single center experience in primary surgery for medullary thyroid carcinoma. World J Surg 28(12):1271-1274. doi:10.1007/ s00268-004-7608-9
39. Raval MV, Sturgeon C, Bentrem DJ, Elaraj DM, Stewart AK, Winchester DJ, Ko CY, Reynolds M (2010) Influence of lymph node metastases on survival in pediatric medullary thyroid cancer. J Pediatr Surg 45(10):1947-1954. doi:10.1016/j.jpedsurg. 2010.06.013
40. Baumgartner-Parzer SM, Lang R, Wagner L, Heinze G, Niederle B, Kaserer K, Waldhausl 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(11):6232-6236. doi:10.1210/jc.2005-1278
41. Frank-Raue K, Rybicki LA, Erlic Z, Schweizer H, Winter A, Milos I, Toledo SP, Toledo RA, Tavares MR, Alevizaki M, Mian C, Siggelkow H, Hufner M, Wohllk N, Opocher G, Dvorakova S, Bendlova B, Czetwertynska M, Skasko E, Barontini M, Sanso G, Vorlander C, Maia AL, Patocs A, Links TP, de Groot JW, Kerstens MN, Valk GD, Miehle K, Musholt TJ, Biarnes J, Damjanovic S, Muresan M, Wuster C, Fassnacht M, Peczkowska M, Fauth C, Golcher H, Walter MA, Pichl J, Raue F, Eng C, Neumann HP (2011) Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat 32(1):51-58. doi: 10.1002/humu.21385
42. 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(4):1035-1041. doi: 10.1677/erc-08-0105
43. Raue F, Frank-Raue K (2010) Update multiple endocrine neoplasia type 2. Fam Cancer 9(3):449-457. doi:10.1007/s10689-010-9320-2
44. Bergenfelz A, Jansson S, Kristoffersson A, Martensson H, Reihner E, Wallin G, Lausen I (2008) Complications to thyroid surgery: Results as reported in a database from a multicenter audit comprising 3,660 patients. Langenbecks Arch Surg 393(5): 667-673. doi:10.1007/s00423-008-0366-7
45. Grubbs EG, Waguespack SG, Rich TA, Xing Y, Ying AK, Evans DB, Lee JE, Perrier ND (2010) Do the recent American Thyroid Association (ATA) Guidelines accurately guide the timing of prophylactic thyroidectomy in MEN2A? Surgery 148(6): 1302-1309. doi:10.1016/j.surg.2010.09.020 Discussion 1309-1310
46. Richter GT, Allen SM, Bodenner D, Suen JY (2009) Diagnostic and surgical Dilemmas in hereditary medullary thyroid carcinoma. Laryngoscope 119(7):1303-1311. doi:10.1002/Lary.20299
47. Fazioli F, Piccinini G, Appolloni G, Bacchiocchi R, Palmonella G, Recchioni R, Pierpaoli E, Silvetti F, Scarpelli M, Bruglia M, Melillo RM, Santoro M, Boscaro M, Taccaliti A (2008) A new germline point mutation in Ret exon 8 (cys515ser) in a family with medullary thyroid carcinoma. Thyroid 18(7):775-782. doi: 10.1089/thy.2007.0365
48. Da Silva AM, Maciel RM, Da Silva MR, Toledo SR, De Carvalho MB, Cerutti JM (2003) A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. J Clin Endocrinol Metab 88(11):5438-5443
49. Mulligan LM, Eng C, Healey CS, Clayton D, Kwok JB, Gardner E, Ponder MA, Frilling A, Jackson CE, Lehnert H et al (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 6(1):70-74. doi:10.1038/ng0194-70
50. Hoppner W, Dralle H, Brabant G (1998) Duplication of 9 base pairs in the critical cysteine-rich domain of the RET protooncogene causes multiple endocrine neoplasia type 2A. Hum Mutat Suppl 1:S128-S130
51. Maschek W, Pichler R, Rieger R, Weinhausel A, Berg J (2002) A new identified germline mutation of the RET proto-oncogene responsible for familial medullary thyroid carcinoma in co-existence with a hyperfunctioning autonomous nodule. Clin Endocrinol (Oxf) 56(6):823
52. Jindrichova S, Vcelak J, Vlcek P, Neradilova M, Nemec J, Bendlova B (2004) Screening of six risk exons of the RET protooncogene in families with medullary thyroid carcinoma in the Czech Republic. J Endocrinol 183(2):257-265. doi:10.1677/joe. 1.05838
53. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Hoppner 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(3):770-774
54. Fink M, Weinhusel A, Niederle B, Haas OA (1996) Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. Study Group Multiple Endocrine Neoplasia Austria (SMENA). Int J Cancer 69(4):312-316. doi:10.1002/(sici)1097-0215(19960822) 69:4\312:aid-ijc13[3.0.co;2-7
55. Smith DP, Houghton C, Ponder BA (1997) Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene 15(10):1213-1217. doi:10.1038/sj.onc. 1201481
56. Hofstra RM, Fattoruso O, Quadro L, Wu Y, Libroia A, Verga U, Colantuoni V, Buys CH (1997) A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab 82(12): 4176-4178
57. Jimenez C, Dang GT, Schultz PN, El-Naggar A, Shapiro S, Barnes EA, Evans DB, Vassilopoulou-Sellin R, Gagel RF, Cote GJ, Hoff AO (2004) A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab 89(7):3521-3526. doi:10.1210/jc.2004-0073
58. Romei C, Cosci B, Renzini G, Bottici V, Molinaro E, Agate L, Passannanti P, Viola D, Biagini A, Basolo F, Ugolini C, Materazzi G, Pinchera A, Vitti P, Elisei R (2011) RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC). Clin Endocrinol (Oxf) 74(2):241-247. doi:10.1111/ j.1365-2265.2010.03900.x
59. Zhang XN, Qi XP, Ma JM, Du ZF, Ying RB, Fei J, Jin HY, Han JS, Wang JQ, Chen XL, Chen CY, Liu WT, Lu JJ, Zhang JG (2011) RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary Thyroid carcinoma family. PLoS One 6(5). doi: 10.1371/journal.pone.0020353
60. Park H, Jung J, Uchino S, Lee Y (2010) A Korean family of familial medullary thyroid cancer with Cys618Ser RET germline mutation. J Korean Med Sci 25(2):226-229. doi:10.3346/jkms. 2010.25.2.226
61. Calva D, O'Dorisio TM, Sue O'Dorisio M, Lal G, Sugg S, Weigel RJ, Howe JR (2009) When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation? Ann Surg Oncol 16(8):2237-2244. doi:10.1245/s10434-009-0524- 3