Abstract
Keywords
Thyroid Neoplasms Medullary Thyroid Carcinoma RET Proto oncogene Germ-Line Mutation Exon2 کارسینومای مدولاری تیروئید سرطان تیروئید جهش ژرملاین پروتوآنکوژن RET اگزون2.
References
-
1.
Siegel R, Naishadham D, Jemal A. Cancer statistics, 2012. CA Cancer J Clin 2012; 62: 10-29.
-
2.
Strosberg JR. Update on the management of unusual neuroendocrine tumors: pheochromocytoma and paraganglioma, medullary thyroid cancer and adrenocortical carcinoma. Sem Oncol 2013; 40: 120-133.
-
3.
Leboulleux S, Baudin E, Travagli JP, Schlumberger M. Medullary thyroid carcinoma. Clin Endoc (Oxf) 2004; 61: 299-310.
-
4.
Randolph GW, Maniar D. Medullary carcinoma of the thyroid. Cancer Control 2000; 7: 253-261.
-
5.
Hoff AO, Hoff PM. Medullary thyroid carcinoma. Hematol Oncol Clin North Am 2007; 21: 475-488.
-
6.
Roman S, Lin R, Sosa JA. Prognosis of medullary thyroid carcinoma: demographic, clinical, and pathologic predictors of survival in 1252 cases. Cancer 2006; 107: 2134-2142.
-
7.
Hedayati M, Nabipour I, Rezaei-Ghaleh N, Azizi F. Germline RET mutations in exons 10 and 11: an Iranian survey of 57 medullary thyroid carcinoma cases. Med J Malaysia 2006; 61: 564-569.
-
8.
Hedayati M, Zarif Yeganeh M, Sheikhol Eslami S, Rezghi Barez S, Hoghooghi Rad L, Azizi F. Predominant RET germline mutations in exons 10, 11, and 16 in Iranian patients with hereditary medullary thyroid carcinoma. J Thyroid Res 2011; 2011: 264248.
-
9.
Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993; 363: 458-460.
-
10.
Romei C, Elisei R, Pinchera A, Ceccherini I, Molinaro E, Mancusi F, et al. Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. J Clin Endoc Metab 1996; 81: 1619-1622.
-
11.
Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, et al. Medullary thyroid cancer: management guidelines of the American thyroid association. Thyroid 2009; 19: 565-612.
-
12.
Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86: 5658-5671.
-
13.
Ishizaka Y, Itoh F, Tahira T, Ikeda I, Sugimura T, Tucker J, et al. Human ret proto-oncogene mapped to chromosome 10q11.2. Oncogene 1989; 4: 1519-1521.
-
14.
Fusco A, Grieco M, Santoro M, Berlingieri MT, Pilotti S, Pierotti MA, et al. A new oncogene in human thyroid papillary carcinomas and their lymph-nodal metastases. Nature 1987; 328: 170-172.
-
15.
Takahashi M, Ritz J, Cooper GM. Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell 1985; 42: 581-588.
-
16.
Mulligan LM. RET revisited: expanding the oncogenic portfolio. Nat Rev Cancer 2014; 14: 173-186.
-
17.
Arighi E, Borrello MG, Sariola H. RET tyrosine kinase signaling in development and cancer. Cytokine Growth Factor Rev 2005; 16: 441-467.
-
18.
Ibanez CF. Structure and physiology of the RET receptor tyrosine kinase. Cold Spring Harb Perspect Biol 2013; 5.
-
19.
Airaksinen MS, Saarma M. The GDNF family: signalling, biological functions and therapeutic value. Nat Rev Neurosci 2002; 3: 383-394.
-
20.
Takahashi M. The GDNF/RET signaling pathway and human diseases. Cytokine Growth Factor Rev 2001; 12: 361-373.
-
21.
Wang X. Structural studies of GDNF family ligands with their receptors-Insights into ligand recognition and activation of receptor tyrosine kinase RET. Biochim Biophys Acta 2013; 1834: 2205-2212.
-
22.
Sheikholeslami SZ, Hoghooghi Rad L, Ghadaksaz Golab H, Hedayati M. Haplotype frequency of G691S/S904S in the RET proto-oncogene in patients with medullary thyroid carcinoma. Iranian J Public Health 2014; 43: 235-240.
-
23.
Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 1996; 276: 1575-1579.
-
24.
Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, et al. Genetics of human enteric neuropathies. Progress Neurobiol 2012; 96: 176-189.
-
25.
Raue F, Frank-Raue K. Genotype-phenotype correlation in multiple endocrine neoplasia type 2. Clinics (Sao Paulo) 2012; 67: 69-75.
-
26.
Moley JF, Debenedetti MK, Dilley WG, Tisell LE, Wells SA. Surgical management of patients with persistent or recurrent medullary thyroid cancer. J Intern Med 1998; 243: 521-526.
-
27.
Ceccherini I, Hofstra RM, Luo Y, Stulp RP, Barone V, Stelwagen T, et al. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene. Oncogene 1994; 9: 3025-3029.
-
28.
Borrego S, Saez ME, Ruiz A, Gimm O, Lopez-Alonso M, Antinolo G, Eng C. 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 1999; 36: 771-774.
-
29.
Lesueur F, Corbex M, McKay JD, Lima J, Soares P, Griseri P, et al. Specific haplotypes of the RET proto-oncogene are over-represented in patients with sporadic papillary thyroid carcinoma. J Med Genet 2002; 39: 260-265.
-
30.
Ghazi AA, Tabibi A, Sarvghadi F, Abdi H, Hedayati M, Pourafkari M, Tirgari F. Run yu multiple endocrine neoplasia Type 2A in an Iranian family: clinical and genetic studies, archives of Iranian medicine. Arch Iranian Med 2014; 17: 378-382.
-
31.
Alvandi E, Akrami SM, Chiani M, Hedayati M, Nayer BN, Tehrani MR, et al. Molecular analysis of the RET proto-oncogene key exons in patients with medullary thyroid carcinoma: a comprehensive study of the Iranian population. Thyroid 2011; 21: 373-382.
-
32.
Hedayati M, Daneshpour M, Delbarpour Ahmadi A, Azizi F. Frequent gerem line mutations in RET proto oncogene exon 10 and 11 in hereditary medullary thyroid carcinom of Iranian population. Kowsar Med J 2010; 1: 17-21. (Persian).
-
33.
Majidi M, Haghpanah V, Hedayati M, Khashayar P, Mohajeri-Tehrani MR, Larijani B. A family presenting with multiple endocrine neoplasia type 2B: A case report. J Med Case Rep 2011; 5: 587.
-
34.
Gimm O, Neuberg DS, Marsh DJ, Dahia PL, Hoang-Vu C, Raue F, et al. Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. Oncogene 1999; 18: 1369-1373.
-
35.
Cebrian A, Lesueur F, Martin S, Leyland J, Ahmed S, Luccarini C, et al. Polymorphisms in the initiators of RET (rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 2005; 90: 6268-6274.
-
36.
Fernandez RM, Pecina A, Antinolo G, Navarro E, Borrego S. Analysis of RET polymorphisms and haplotypes in the context of sporadic medullary thyroid carcinoma. Thyroid 2006; 16: 411-417.
-
37.
Fugazzola L, Muzza M, Mian C, Cordella D, Barollo S, Alberti L, et al. RET genotypes in sporadic medullary thyroid cancer: studies in a large Italian series. Clin Endoc (Oxf) 2008; 69: 418-425.
-
38.
Moore SW, Appfelstaedt J, Zaahl MG. Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2. J Pediatr Surg 2007; 42: 326-332.
-
39.
Chang CF, Yang WS, Su YN, Wu IL, Chang TC. Mutational spectrum of multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma in taiwan. J Formos Med Assoc 2009; 108: 402-408.
-
40.
Figlioli G, Landi S, Romei C, Elisei R, Gemignani F. Medullary thyroid carcinoma (MTC) and RET proto-oncogene: Mutation spectrum in the familial cases and a meta-analysis of studies on the sporadic form. Mutat Res 2013; 752: 36-44.
-
41.
Qi XP, Ying RB, Ma JM, Liu WT, Du ZF, Fei J, et al. Case report: a p.C618S RET proto-oncogene germline mutation in a large Chinese pedigree with familial medullary thyroid carcinoma. Fam Cancer 2012; 11: 131-136.
-
42.
Lindsey SC, Kunii IS, Germano-Neto F, Sittoni MY, Camacho CP, Valente FO, et al. Extended RET gene analysis in patients with apparently sporadic medullary thyroid cancer: clinical benefits and cost. Horm Cancer 2012; 3: 181-186.
-
43.
Machens A, Brauckhoff M, Holzhausen HJ, Thanh PN, Lehnert H, Dralle H. Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 2005; 90: 3999-4003.
-
44.
Agrawal N, Jiao Y, Sausen M, Leary R, Bettegowda C, Roberts NJ, et al. Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. J Clin Endocrinol Metab 2013; 98: E364-369.
-
45.
Machens A, Gimm O, Hinze R, Hoppner W, Boehm BO, Dralle H. Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. J Clin Endocrinol Metab 2001; 86: 1104-1109.
-
46.
Raue F, Frank-Raue K. Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens) 2009; 8: 23-28.