References
- A W (1922 ). Multiple neurome des Auges und der Zunge. Ber Dtsch Ophthal, 43, 282-5.
- Agrawal N, Jiao Y, Sausen M, et al (2013). Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. J Clin Endocrinol Metab, 98, 364-9. https://doi.org/10.1210/jc.2012-2703
- Airaksinen MS, Saarma M (2002). The GDNF family: signalling, biological functions and therapeutic value. Nat Rev Neurosci, 3, 383-94. https://doi.org/10.1038/nrn812
- AJ J (1906). Ein fall von metastasierenden amyloidtumoren (lymphosarcoma). Virchows Arch, 185, 251-67. https://doi.org/10.1007/BF01948712
- Alvandi E, Akrami SM, Chiani M, et al (2011). Molecular analysis of the RET proto-oncogene key exons in patients with medullary thyroid carcinoma: a comprehensive study of the Iranian population. Thyroid, 21, 373-82. https://doi.org/10.1089/thy.2010.0267
- Arighi E, Alberti L, Torriti F, et al (1997). Identification of Shc docking site on Ret tyrosine kinase. Oncogene, 14, 773-82. https://doi.org/10.1038/sj.onc.1200896
- Arighi E, Borrello MG, Sariola H (2005). RET tyrosine kinase signaling in development and cancer. Cytokine Growth Factor Reviews, 16, 441-67. https://doi.org/10.1016/j.cytogfr.2005.05.010
- Asai N, Iwashita T, Matsuyama M, et al (1995). Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol, 15, 1613-9. https://doi.org/10.1128/MCB.15.3.1613
- Boikos SA, Stratakis CA (2008). Molecular mechanisms of medullary thyroid carcinoma: current approaches in diagnosis and treatment. Histol Histopathol, 23, 109-16.
- Brandi ML, Gagel RF, Angeli A, et al (2001). Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab, 86, 5658-71. https://doi.org/10.1210/jcem.86.12.8070
- Brauckhoff M, Machens A, Hess S, et al (2008). Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: An exploratory analysis. Surg, 144, 1044-51. https://doi.org/10.1016/j.surg.2008.08.028
- C F (1923). Das aus markhaltigen nervenfascern bestehende gangliezellenlose echte neurom in rankenformzugleich ein beitrag zu den nervosen Geschwulsten der zunge und des augenlides. Virchows Arch Pathol Anat, 240, 312-27.
- Campbell MJ, Seib CD, Gosnell J (2013). Vandetanib and the management of advanced medullary thyroid cancer. Curr Opin Oncol, 25, 39-43. https://doi.org/10.1097/CCO.0b013e32835a42b9
- Ceccherini I, Bocciardi R, Luo Y, et al (1993). Exon structure and flanking intronic sequences of the human RET proto-oncogene. Biochem Biophys Res Commun, 196, 1288-95. https://doi.org/10.1006/bbrc.1993.2392
- Cohen MS, Moley JF (2003). Surgical treatment of medullary thyroid carcinoma. J Intern Med, 253, 616-26. https://doi.org/10.1046/j.1365-2796.2003.01166.x
- Colombo-Benkmann M, Li Z, Riemann B, et al (2008). Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma. Eur J Endocrinol, 158, 811-6. https://doi.org/10.1530/EJE-07-0817
- Costante G, Meringolo D, Durante C, et al (2007). Predictive value of serum calcitonin levels for preoperative diagnosis of medullary thyroid carcinoma in a cohort of 5817 consecutive patients with thyroid nodules. J Clin Endocrinol Metab, 92, 450-5. https://doi.org/10.1210/jc.2006-1590
- Cushma Jr P (1962). Familial endocrine tumors: Report of two unrelated kindred affected with pheochromocytomas, one also with multiple thyroid carcinomas. Am J Med, 32, 352-60. https://doi.org/10.1016/0002-9343(62)90126-2
- de Groot JW, Links TP, Plukker JT, et al (2006). RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev, 27, 535-60. https://doi.org/10.1210/er.2006-0017
- Donis-Keller H, Dou S, Chi D, et al (1993). Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet, 2, 851-6. https://doi.org/10.1093/hmg/2.7.851
- Donovan DT, Levy ML, Furst EJ, et al (1989). Familial cutaneous lichen amyloidosis in association with multiple endocrine neoplasia type 2A: a new variant. Henry Ford Hosp Med J, 37, 147-50.
- Edery P, Lyonnet S, Mulligan LM, et al (1994). Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature, 367, 378-80. https://doi.org/10.1038/367378a0
- Elisei R, Cosci B, Romei C, et al (2008). Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. J Clin Endocrinol Metab, 93, 682-7. https://doi.org/10.1210/jc.2007-1714
- Eng C, Clayton D, Schuffenecker I, 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, 1575-9. https://doi.org/10.1001/jama.1996.03540190047028
- Figlioli G, Landi S, Romei C, et al (2013). 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 Rev Mutat Res, 752, 36-44. https://doi.org/10.1016/j.mrrev.2012.09.002
- Fishbein L, Nathanson KL (2012). Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genetics, 205, 1-11. https://doi.org/10.1016/j.cancergen.2012.01.009
- Frank-Raue K, Buhr H, Dralle H, et al (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, 229-36. https://doi.org/10.1530/eje.1.02216
- Frank-Raue K, Rondot S, Schulze E, et al (2007). Change in the spectrum of RET mutations diagnosed between 1994 and 2006. Clin Lab, 53, 273-82.
- Frank-Raue K, Rybicki LA, Erlic Z, et al (2011). Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat, 32, 51-8. https://doi.org/10.1002/humu.21385
- Gagel RF, Levy ML, Donovan DT, et al (1989). Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med, 111, 802-6. https://doi.org/10.7326/0003-4819-111-10-802
- Gimm O, Marsh DJ, Andrew SD, et al (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, 3902-4. https://doi.org/10.1210/jcem.82.11.4508
- Girelli ME, Nacamulli D, Pelizzo MR, et al (1998). Medullary thyroid carcinoma: clinical features and long-term follow-up of seventy-eight patients treated between 1969 and 1986. Thyroid, 8, 517-23. https://doi.org/10.1089/thy.1998.8.517
- Hazard JB, Hawk WA, Crile G, (1959). Medullary (solid) carcinoma of the thyroid; a clinicopathologic entity. J Clin Endocrinol Metab, 19, 152-61. https://doi.org/10.1210/jcem-19-1-152
- Hedayati M, Nabipour I, Rezaei-Ghaleh N, et al (2006). Germline RET mutations in exons 10 and 11: an Iranian survey of 57 medullary thyroid carcinoma cases. Med J Malaysia, 61, 564-9.
- Hedayati M, Zarif Yeganeh M, Sheikhol Eslami S, et al (2011). Predominant RET germline mutations in exons 10, 11, and 16 in Iranian patients with hereditary medullary thyroid carcinoma. J Thyroid Res, 2011, 264248.
- Hickey JG, Myers SM, Tian X, et al (2009). RET-mediated gene expression pattern is affected by isoform but not oncogenic mutation. Genes Chromosomes Cancer, 48, 429-40. https://doi.org/10.1002/gcc.20653
- Hoff AO, Hoff PM (2007). Medullary Thyroid Carcinoma. Hematology Oncol Clin North Am, 21, 475-88. https://doi.org/10.1016/j.hoc.2007.04.002
- Ivanchuk SM, Myers SM, Mulligan LM (1998). Expression of RET 3' splicing variants during human kidney development. Oncogene, 16, 991-6. https://doi.org/10.1038/sj.onc.1201622
- Iwashita T, Asai N, Murakami H, et al (1996). Identification of tyrosine residues that are essential for transforming activity of the ret proto-oncogene with MEN2A or MEN2B mutation. Oncogene, 12, 481-7.
- Kebebew E, Ituarte PH, Siperstein AE, et al (2000). Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems. Cancer, 88, 1139-48. https://doi.org/10.1002/(SICI)1097-0142(20000301)88:5<1139::AID-CNCR26>3.0.CO;2-Z
- Kloos RT, Eng C, Evans DB, et al (2009). Medullary thyroid cancer: management guidelines of the American thyroid association. Thyroid, 19, 565-612. https://doi.org/10.1089/thy.2008.0403
- Kouvaraki MA, Shapiro SE, Perrier ND, et al (2005). RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid, 15, 531-44. https://doi.org/10.1089/thy.2005.15.531
- Leboulleux S, Baudin E, Travagli JP, et al (2004). Medullary thyroid carcinoma. Clin Endocrinol (Oxf), 61, 299-310. https://doi.org/10.1111/j.1365-2265.2004.02037.x
- Lin CC (2011). RET mutations and medullary thyroid cancer. J Formos Med Assoc, 110, 731; author reply 2. https://doi.org/10.1016/j.jfma.2011.09.017
- LiVolsi VA (1997). C cell hyperplasia/neoplasia. J Clin Endocrinol Metab, 82, 39-41. https://doi.org/10.1210/jcem.82.1.3707
- Lorenzo MJ, Gish GD, Houghton C, et al (1997). RET alternate splicing influences the interaction of activated RET with the SH2 and PTB domains of Shc, and the SH2 domain of Grb2. Oncogene, 14, 763-71. https://doi.org/10.1038/sj.onc.1200894
- Machens A, Brauckhoff M, Holzhausen HJ, et al (2005). Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab, 90, 3999-4003. https://doi.org/10.1210/jc.2005-0064
- Machens A, Dralle H (2006). Multiple endocrine neoplasia type 2 and the RET protooncogene: from bedside to bench to bedside. Molec Cell Endocrinol, 247, 34-40. https://doi.org/10.1016/j.mce.2005.10.028
- Machens A, Gimm O, Hinze R, et al (2001). Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. J Clin Endocrinol Metab, 86, 1104-9.
- Machens A, Hauptmann S, Dralle H (2007). Increased risk of lymph node metastasis in multifocal hereditary and sporadic medullary thyroid cancer. World J Surg, 31, 1960-5. https://doi.org/10.1007/s00268-007-9185-1
- Machens A, Niccoli-Sire P, Hoegel J, et al (2003). Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med, 349, 1517-25. https://doi.org/10.1056/NEJMoa012915
- Majidi M, Haghpanah V, Hedayati M, et al (2011). A family presenting with multiple endocrine neoplasia type 2B: A case report. J Med Case Rep, 5, 587. https://doi.org/10.1186/1752-1947-5-587
- Manie S, Santoro M, Fusco A, et al (2001). The RET receptor: function in development and dysfunction in congenital malformation. Trends Genet, 17, 580-9. https://doi.org/10.1016/S0168-9525(01)02420-9
- Marx SJ, Stratakis CA (2005). Multiple endocrine neoplasia--introduction. J Intern Med, 257, 2-5. https://doi.org/10.1111/j.1365-2796.2004.01419.x
- Masbi MH, Mohammadiasl J, Galehdari H, et al (2014). Characterization of wild-type and mutated RET proto-oncogene associated with familial medullary thyroid cancer. Asian Pac J Cancer Prev, 15, 2027-33. https://doi.org/10.7314/APJCP.2014.15.5.2027
- Meng X, Lindahl M, Hyvonen ME, et al (2000). Regulation of cell fate decision of undifferentiated spermatogonia by GDNF. Science, 287, 1489-93. https://doi.org/10.1126/science.287.5457.1489
- Miyauchi A, Futami H, Hai N, et al (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, 1-5. https://doi.org/10.1111/j.1349-7006.1999.tb00658.x
- Modigliani E, Cohen R, Campos JM, et al (1998). Prognostic factors for survival and for biochemical cure in medullary thyroid carcinoma: results in 899 patients. The GETC Study Group. Groupe d'etude des tumeurs a calcitonine. Clin Endocrinol (Oxf), 48, 265-73. https://doi.org/10.1046/j.1365-2265.1998.00392.x
- Moley JF, DeBenedetti MK (1999). Patterns of nodal metastases in palpable medullary thyroid carcinoma: recommendations for extent of node dissection. Ann Surg, 229, 880-7. https://doi.org/10.1097/00000658-199906000-00016
- Moley JF, Debenedetti MK, Dilley WG, et al (1998). Surgical management of patients with persistent or recurrent medullary thyroid cancer. J Intern Med, 243, 521-6. https://doi.org/10.1046/j.1365-2796.1998.00333.x
- Moline J, Eng C (2011). Multiple endocrine neoplasia type 2: an overview. Genet Med, 13, 755-64. https://doi.org/10.1097/GIM.0b013e318216cc6d
- Mulligan LM, Eng C, Healey CS, et al (1994). Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet, 6, 70-4. https://doi.org/10.1038/ng0194-70
- Mulligan LM, Kwok JB, Healey CS, et al (1993). Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458-60. https://doi.org/10.1038/363458a0
- Myers SM, Eng C, Ponder BA, et al (1995). Characterization of RET proto-oncogene 3' splicing variants and polyadenylation sites: a novel C-terminus for RET. Oncogene, 11, 2039-45.
- Oberg K (2013). The genetics of neuroendocrine tumors. Sem Oncol, 40, 37-44. https://doi.org/10.1053/j.seminoncol.2012.11.005
- Pacak K, Ilias I, Adams KT, et al (2005). Biochemical diagnosis, localization and management of pheochromocytoma: focus on multiple endocrine neoplasia type 2 in relation to other hereditary syndromes and sporadic forms of the tumour. J Intern Med, 257, 60-8. https://doi.org/10.1111/j.1365-2796.2004.01425.x
- Pachnis V, Mankoo B, Costantini F (1993). Expression of the c-ret proto-oncogene during mouse embryogenesis. Development, 119, 1005-17.
- Panza E, Knowles CH, Graziano C, et al (2012). Genetics of human enteric neuropathies. Progress Neurobiology, 96, 176-89. https://doi.org/10.1016/j.pneurobio.2012.01.001
- Phay JE, Shah MH (2010). Targeting RET receptor tyrosine kinase activation in cancer. Clin Cancer Res, 16, 5936-41. https://doi.org/10.1158/1078-0432.CCR-09-0786
- Quayle FJ, Fialkowski EA, Benveniste R, et al (2007). Pheochromocytoma penetrance varies by RET mutation in MEN 2A. Surgery, 142, 800-5. https://doi.org/10.1016/j.surg.2007.09.013
- Quayle FJ, Moley JF (2005). Medullary thyroid carcinoma: management of lymph node metastases. Curr Treat Options Oncol, 6, 347-54. https://doi.org/10.1007/s11864-005-0038-6
- Randolph GW, Maniar D (2000). Medullary carcinoma of the thyroid. Cancer Control, 7, 253-61.
- Raue F, Frank-Raue K (2009). Genotype-phenotype relationship in multiple endocrine neoplasia type 2. Implications for clinical management. Hormones (Athens), 8, 23-8. https://doi.org/10.14310/horm.2002.1218
- Raue F, Frank-Raue K (2010). Update multiple endocrine neoplasia type 2. Fam Cancer, 9, 449-57. https://doi.org/10.1007/s10689-010-9320-2
- Raue F, Frank-Raue K (2012). Genotype-phenotype correlation in multiple endocrine neoplasia type 2. Clinics, 67, 69-75.
- Roman S, Lin R, Sosa JA (2006). Prognosis of medullary thyroid carcinoma: demographic, clinical, and pathologic predictors of survival in 1252 cases. Cancer, 107, 2134-42. https://doi.org/10.1002/cncr.22244
- Romei C, Cosci B, Renzini G, et al (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, 74, 241-7. https://doi.org/10.1111/j.1365-2265.2010.03900.x
- Romei C, Elisei R, Pinchera A, et al (1996). 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 Endocrinol Metab, 81, 1619-22.
- Saad MF, Ordonez NG, Rashid RK, et al (1984). Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. Medicine, 63, 319-42. https://doi.org/10.1097/00005792-198411000-00001
- Salehian B, Samoa R (2013). RET Gene abnormalities and thyroid disease: who should be screened and when. J Clin Res Pediatr Endocrinol, 5, 70-8. https://doi.org/10.4274/Jcrpe.870
- Santoro M, Melillo RM, Carlomagno F, et al (2004). Minireview: RET: normal and abnormal functions. Endocrinology, 145, 5448-51. https://doi.org/10.1210/en.2004-0922
- Scollo C, Baudin E, Travagli JP, et al (2003). Rationale for central and bilateral lymph node dissection in sporadic and hereditary medullary thyroid cancer. J Clin Endocrinol Metab, 88, 2070-5. https://doi.org/10.1210/jc.2002-021713
- Segouffin-Cariou C, Billaud M (2000). Transforming ability of MEN2A-RET requires activation of the phosphatidylinositol 3-kinase/AKT signaling pathway. J Biol Chem, 275, 3568-76. https://doi.org/10.1074/jbc.275.5.3568
- Siegel R, Naishadham D, Jemal A (2012). Cancer statistics, 2012. CA Cancer J Clin, 62, 10-29. https://doi.org/10.3322/caac.20138
- Sippel RS, Kunnimalaiyaan M, Chen H (2008). Current management of medullary thyroid cancer. Oncologist, 13, 539-47. https://doi.org/10.1634/theoncologist.2007-0239
- Sipple JH (1961). The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med, 31, 163-6. https://doi.org/10.1016/0002-9343(61)90234-0
- Steiner AL, Goodman AD, Powers SR (1968). Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing's disease: multiple endocrine neoplasia, type 2. Medicine, 47, 371-409. https://doi.org/10.1097/00005792-196809000-00001
- Strosberg JR (2013). Update on the management of unusual neuroendocrine tumors: pheochromocytoma and paraganglioma, medullary thyroid cancer and adrenocortical carcinoma. Semi Oncol, 40, 120-33. https://doi.org/10.1053/j.seminoncol.2012.11.009
- Takahashi M (2001). The GDNF/RET signaling pathway and human diseases. Cytokine Growth Factor Rev, 12, 361-73. https://doi.org/10.1016/S1359-6101(01)00012-0
- Takahashi M, Asai N, Iwashita T, et al (1993). Characterization of the ret proto-oncogene products expressed in mouse L cells. Oncogene, 8, 2925-9.
- Takahashi M, Ritz J, Cooper GM (1985). Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell, 42, 581-8. https://doi.org/10.1016/0092-8674(85)90115-1
- Tallini G, Asa SL (2001). RET oncogene activation in papillary thyroid carcinoma. Adv Anat Pathol, 8, 345-54. https://doi.org/10.1097/00125480-200111000-00005
- Williams ED (1966). Histogenesis of medullary carcinoma of the thyroid. J Clin Pathol, 19, 114-8. https://doi.org/10.1136/jcp.19.2.114
- Williams ED PD (1966 ). Multiple mucosal neuromata with endocrine tumours: a syndrome allied to von Recklinghausen's disease. J Pathol Bacteriol, 91, 71-80. https://doi.org/10.1002/path.1700910109
- Williams ED, Pollock DJ (1966). Multiple mucosal neuromata with endocrine tumours: a syndrome allied to von Recklinghausen's disease. J Pathol Bacteriol, 91, 71-80. https://doi.org/10.1002/path.1700910109
- Wohllk N, Schweizer H, Erlic Z, et al (2010). Multiple endocrine neoplasia type 2. Best Pract Res Clin Endocrinol Metab, 24, 371-87. https://doi.org/10.1016/j.beem.2010.02.001
- Wray CJ, Rich TA, Waguespack SG, et al (2008). Failure to recognize multiple endocrine neoplasia 2B: more common than we think? Ann Surg Oncol, 15, 293-301. https://doi.org/10.1245/s10434-007-9665-4
- Xu L, Wang WB, Zhao YP, et al (2012). Medullary thyroid carcinoma with nodular goiter carries an excellent prognosis. J Surg Oncol, 106, 169-73. https://doi.org/10.1002/jso.23070
- Zbuk KM, Eng C (2007). Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer, 7, 35-45. https://doi.org/10.1038/nrc2037
Cited by
- Mutational analysis of pulmonary tumours with neuroendocrine features using targeted massive parallel sequencing: a comparison of a neglected tumour group vol.113, pp.12, 2015, https://doi.org/10.1038/bjc.2015.397
- High Affinity Pharmacological Profiling of Dual Inhibitors Targeting RET and VEGFR2 in Inhibition of Kinase and Angiogeneis Events in Medullary Thyroid Carcinoma vol.16, pp.16, 2015, https://doi.org/10.7314/APJCP.2015.16.16.7089
- PI3K/AKT Pathway and Its Mediators in Thyroid Carcinomas vol.20, pp.1, 2016, https://doi.org/10.1007/s40291-015-0175-y
- proto-oncogene and its oncogenic mechanism in medullary thyroid cancer vol.53, pp.4, 2016, https://doi.org/10.3109/10408363.2015.1129529
- Altered Epigenetic Mechanisms in Thyroid Cancer Subtypes pp.1179-2000, 2017, https://doi.org/10.1007/s40291-017-0303-y
- Signaling pathways in medullary thyroid carcinoma: therapeutic implications vol.3, pp.4, 2016, https://doi.org/10.2217/ije-2016-0014
- Anlotinib for the Treatment of Patients with Locally Advanced or Metastatic Medullary Thyroid Cancer pp.1557-9077, 2018, https://doi.org/10.1089/thy.2018.0022