The influence of gender, age, and RET polymorphisms on C-cell hyperplasia and medullary thyroid carcinoma

Thyroid

Volumn 18, Issue 12, 2008, Pages 1269-1276

  Weinhaeusel, Andreas ^a,b   Scheuba, Christian ^c   Lauss, Martin ^a   Kriegner, Albert ^a   Kaserer, Klaus ^c   Vierlinger, Klemens ^a   Haas, Oskar A ^b   Niederle, Bruno ^c  

^a ARC SEIBERSDORF RESEARCH GMBH   (Austria)

^b ST ANNA CHILDREN S HOSPITAL   (Austria)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; PENTAGASTRIN; PROTEIN RET;

ADULT; AGE; AGED; ARTICLE; AUSTRIA; C CELL HYPERPLASIA; CALCITONIN BLOOD LEVEL; CELL HYPERPLASIA; CONTROLLED STUDY; FEMALE; GENDER; GENE FREQUENCY; GENOTYPE; HISTOPATHOLOGY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID CANCER; THYROID MEDULLARY CARCINOMA;

ADULT; AGE FACTORS; AGED; CALCITONIN; CARCINOMA, MEDULLARY; FEMALE; GENE FREQUENCY; HUMANS; HYPERPLASIA; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-RET; SEX FACTORS; THYROID GLAND; THYROID NEOPLASMS; THYROIDECTOMY;

EID: 57449093995     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/thy.2008.0139     Document Type: Article

References (40)

1. Niederle B, Haas OA 2002 Multiple endocrine neoplasia syndromes. Wien Klin Wochenschr 114:239-245.
2. Gimm O 2001 Multiple endocrine neoplasia type 2: clinical aspects. Front Horm Res 28:103-130.
3. Jimenez C, Gagel RF 2004 Genetic testing in endocrinology: lessons learned from experience with multiple endocrine neoplasia type 2 (MEN2). Growth Horm IGF Res 14 Suppl A:S150-S157.
4. Leboulleux S, Baudin E, Travagli JP, Schlumberger M 2004 Medullary thyroid carcinoma. Clin Endocrinol (Oxf) 61:299-310.
5. Pacini F, Elisei R, Romei C, Pinchera A 2000 RET protooncogene mutations in thyroid carcinomas: clinical relevance. J Endocrinol Invest 23:328-338.
6. Wells SA Jr, Franz C 2000 Medullary carcinoma of the thyroid gland. World J Surg 24:952-956.
7. Gimm O, Neuberg DS, Marsh DJ, Dahia PL, Hoang-Vu C, Raue F, Hinze R, Dralle H, Eng C 1999 Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene 18:1369-1373.
8. Elisei R, Cosci B, Romei C, Bottici V, Sculli M, Lari R, Barale R, Pacini F, Pinchera A 2004 RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. J Clin Endocrinol Metab 89:3579-3584.
9. Cebrian A, Lesueur F, Martin S, Leyland J, Ahmed S, Luccarini C, Smith PL, Luben R, Whittaker J, Pharoah PD, Dunning AM, Ponder BA 2005 Polymorphisms in the initiators of RET (rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 90:6268-6274.
10. Robledo M, Gil L, Pollan M, Cebrian A, Ruiz S, Azanedo M, Benitez J, Menarguez J, Rojas JM 2003 Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. Cancer Res 63:1814-1817.
11. Ruiz A, Antinolo G, Fernandez RM, Eng C, Marcos I, Borrego S 2001 Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population. Clin Endocrinol (Oxf) 55:399-402.
12. Griseri P, Pesce B, Patrone G, Osinga J, Puppo F, Sancandi M, Hofstra R, Romeo G, Ravazzolo R, Devoto M, Ceccherini I 2002 A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease. Am J Hum Genet 71:969-974.
13. Wiench M, Wygoda Z, Gubala E, Wloch J, Oczko M, Jarzab B 2001 The genetic background of medullary thyroid carcinoma in young patients. Folia Histochem Cytobiol 39 Suppl 2:163-164.
14. 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 19:1374-1380.
15. Lesueur F, Corbex M, McKay JD, Lima J, Soares P, Griseri P, Burgess J, Ceccherini I, Landolfi S, Papotti M, Amorim A, Goldgar DE, Romeo G 2002 Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma. J Med Genet 39:260-265.
16. Bunone G, Uggeri M, Mondellini P, Pierotti MA, Bongarzone I 2000 RET receptor expression in thyroid follicular epithelial cell-derived tumors. Cancer Res 60:2845-2849.
17. Bounacer A, Du Villard JA, Wicker R, Caillou B, Schlumberger M, Sarasin A, Suarez HG 2002 Association of RET codon 691 polymorphism in radiation-induced human thyroid tumours with C-cell hyperplasia in peritumoural tissue. Br J Cancer 86:1929-1936.
18. Kaserer K, Scheuba C, Neuhold N, Weinhausel A, Vierhapper H, Haas OA, Niederle B 1998 C-cell hyperplasia and medullary thyroid carcinoma in patients routinely screened for serum calcitonin. Am J Surg Pathol 22:722-728.
19. Kaserer K, Scheuba C, Neuhold N, Weinhausel A, Vierhapper H, Niederle B 2002 Recommendations for reporting C cell pathology of the thyroid. Wien Klin Wochenschr 114:274-278.
20. Scheuba C, Kaserer K, Weinhausl A, Pandev R, Kaider A, Passler C, Prager G, Vierhapper H, Haas OA, Niederle B 1999 Is medullary thyroid cancer predictable? A prospective study of 86 patients with abnormal pentagastrin tests. Surgery 126:1089-1095.
21. Perry A, Molberg K, Albores-Saavedra J 1996 Physiologic versus neoplastic C-cell hyperplasia of the thyroid: separation of distinct histologic and biologic entities. Cancer 77:750-756.
22. Kaserer K, Scheuba C, Neuhold N, Weinhausel A, Haas OA, Vierhapper H, Niederle B 2001 Sporadic versus familial medullary thyroid microcarcinoma: a histopathologic study of 50 consecutive patients. Am J Surg Pathol 25:1245-1251.
23. Fink M, Weinhusel A, Niederle B, Haas OA 1996 Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET protooncogene. Study Group Multiple Endocrine Neoplasia Austria (SMENA). Int J Cancer 69:312-316.
24. Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, Pasini B, Bocciardi R, Lerone M, Kaariainen H 1994 Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367:377-378.
25. Ceccherini I, Hofstra RM, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M 1994 DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 9:3025-3029.
26. Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antinolo G, Eng C 1999 Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression. J Med Genet 36:771-774.
27. Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, Lopez-Alonso M, Hernandez A, Wright FA, Antinolo G, Eng C 2000 RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease. J Med Genet 37:572-578.
28. Borrego S, Wright FA, Fernandez RM, Williams N, Lopez-Alonso M, Davuluri R, Antinolo G, Eng C 2003 A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma. Am J Hum Genet 72:88-100.
29. Fitze G, Schreiber M, Kuhlisch E, Schackert HK, Roesner D 1999 Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease. Am J Hum Genet 65:1469-1473.
30. Griseri P, Sancandi M, Patrone G, Bocciardi R, Hofstra R, Ravazzolo R, Devoto M, Romeo G, Ceccherini I 2000 A single-nucleotide polymorphic variant of the RET protooncogene is underrepresented in sporadic Hirschsprung disease. Eur J Hum Genet 8:721-724.
31. Fugazzola L, Muzza M, Mian C, Cordella D, Barollo S, Alberti L, Cirello V, Dazzi D, Girelli ME, Opocher G, Beck-Peccoz P, Persani L 2008 RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series. Clin Endocrinol (Oxf), E Pub.
32. Fernandez RM, Pecina A, Antinolo G, Navarro E, Borrego S 2006 Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. Thyroid 16:411-417.
33. Fitze G, Schierz M, Kuhlisch E, Schreiber M, Ziegler A, Roesner D, Schackert HK 2003 Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease. Hum Mutat 22:177.
34. Gursoy A, Erdogan MF, Erdogan G 2006 Significance of the RET proto-oncogene polymorphisms in Turkish sporadic medullary thyroid carcinoma patients. J Endocrinol Invest 29:858-862.
35. Ruiz-Llorente S, Montero-Conde C, Milne RL, Moya CM, Cebrian A, Leton R, Cascon A, Mercadillo F, Landa I, Borrego S, Perez de NG, varez-Escola C, az-Perez JA, Carracedo A, Urioste M, Gonzalez-Neira A, Benitez J, Santisteban P, Dopazo J, Ponder BA, Robledo M 2007 Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma. Cancer Res 67:9561-9567.
36. Scopsi L, Di Palma S, Ferrari C, Holst JJ, Rehfeld JF, Rilke F 1991 C-cell hyperplasia accompanying thyroid diseases other than medullary carcinoma: an immunocytochemical study by means of antibodies to calcitonin and somatostatin. Mod Pathol 4:297-304.
37. Matakidou A, Hamel N, Popat S, Henderson K, Kantemiroff T, Harmer C, Clarke SE, Houlston RS, Foulkes WD 2004 Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene. Carcinogenesis 25:369-373.
38. Scheiden R, Keipes M, Bock C, Dippel W, Kieffer N, Capesius C 2006 Thyroid cancer in Luxembourg: a national population-based data report (1983-1999). BMC Cancer 6:102.
39. Uchino S, Noguchi S, Kawamoto H, Yamashita H, Watanabe S, Yamashita H, Shuto S 2002 Familial nonmedullary thyroid carcinoma characterized by multifocality and a high recurrence rate in a large study population. World J Surg 26:897-902.
40. 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 SA Jr, Marx SJ 2001 Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658-5671.