Molecular and genetic markers of follicular-cell thyroid cancer: Etiology and diagnostic and therapeutic opportunities

Advances in Experimental Medicine and Biology

Volumn 779, Issue , 2013, Pages 309-326

  Goyal, Neerav ^a   Setabutr, Dhave ^a   Abdulghani, Junaid ^b   Goldenberg, David ^a  

^a PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^b PENN STATE CANCER INSTITUTE   (United States)

Author keywords

Anaplastic thyroid carcinoma; BRAF; Chemotherapy; Follicular thyroid cancer; Genetics; Papillary thyroid carcinoma; Thyroid neoplasm; Tyrosine kinase inhibitors

Indexed keywords

2 (2 CHLORO 4 IODOANILINO) N CYCLOPROPYLMETHOXY 3,4 DIFLUOROBENZAMIDE; AG 01 3736; AXITINIB; B RAF KINASE; GEFITINIB; HLA ANTIGEN; IMATINIB; MITOGEN ACTIVATED PROTEIN KINASE; MOTESANIB; PAZOPANIB; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN P53; PROTEIN PATCHED; PROTEIN RET; RAS PROTEIN; RETINOIC ACID; SORAFENIB; SUNITINIB; TRANSCRIPTION FACTOR PAX8; TRANSCRIPTION FACTOR TWIST; TRANSCRIPTION FACTOR TWIST1; UNCLASSIFIED DRUG; VANDETANIB;

ANAPLASTIC THYROID CANCER; ANTINEOPLASTIC ACTIVITY; CANCER DIAGNOSIS; CANCER EPIDEMIOLOGY; CANCER STEM CELL; CANCER SURVIVAL; CARCINOGENESIS; ENZYME INHIBITION; EPITHELIAL MESENCHYMAL TRANSITION; GENE MUTATION; GENE TARGETING; GENETIC MARKER; HISTOPATHOLOGY; HUMAN; HURTHLE CELL CARCINOMA; MOLECULAR DIAGNOSIS; MOLECULARLY TARGETED THERAPY; NONHUMAN; ONCOCYTOMA; PRIORITY JOURNAL; RADIATION EXPOSURE; RADIATION INDUCED NEOPLASM; REVIEW; SURVIVAL TIME; THYROID CARCINOMA; THYROID FOLLICULAR CARCINOMA; TUMOR MICROENVIRONMENT;

EID: 84873584126     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4614-6176-0_14     Document Type: Review

References (83)

1. Jemal A, Bray F, Center MM, Ferlay J, Ward E, Forman D. Global cancer statistics. CA Cancer J Clin. 2011;61(2):69-90.
2. Cancer Facts & Figures. 2011. Atlanta: American Cancer Society. Available from: Http://www. cancer.org/Research/CancerFactsFigures/ CancerFactsFigures/cancer-facts-figures-2011 .
3. Nucera C, Lawler J, Hodin R, Parangi S. The BRAFV600E mutation: What is it really orchestrating in thyroid cancer? Oncotarget. 2010;1(8):751-6.
4. Sherman SI. Thyroid carcinoma. Lancet. 2003;361(9356):501-11.
5. Choi JS, Kim J, Kwak JY, Kim MJ, Chang HS, Kim EK. Preoperative staging of papillary thyroid carcinoma: Comparison of ultrasound imaging and CT. AJR Am J Roentgenol. 2009;193(3):871-8.
6. Stulak JM, Grant CS, Farley DR, Thompson GB, van Heerden JA, Hay ID, et al. Value of preoperative ultrasonography in the surgical management of initial and reoperative papillary thyroid cancer. Arch Surg. 2006;141(5):489-94. discussion 94-6.
7. Bilimoria KY, Bentrem DJ, Ko CY, Stewart AK, Winchester DP, Talamonti MS, et al. Extent of surgery affects survival for papillary thyroid cancer. Ann Surg. 2007;246(3):375-81. discussion 81-4.
8. LiVolsi VA. Papillary thyroid carcinoma: An update. Mod Pathol. 2011;24(SUPPL2):S1-9.
9. Puxeddu E, Durante C, Avenia N, Filetti S, Russo D. Clinical implications of BRAF mutation in thyroid carcinoma. Trends Endocrinol Metab. 2008;19(4):138-45. Molecular and Genetic Markers of Follicular-Cell Thyroid Cancer. 3233
10. Xing M. BRAF mutation in papillary thyroid cancer: Pathogenic role, molecular bases, and clinical implications. Endocr Rev. 2007;28(7):742-62.
11. Bhaijee F, Nikiforov YE. Molecular analysis of thyroid tumors. Endocr Pathol. 2011;22(3):126-33.
12. Carpi A, Mechanick JI, Saussez S, Nicolini A. Thyroid tumor marker genomics and proteomics: Diagnostic and clinical implications. J Cell Physiol. 2010;224(3):612-9.
13. Xing M. Recent advances in molecular biology of thyroid cancer and their clinical implications. Otolaryngol Clin North Am. 2008;41(6):1135-46.
14. Riesco-Eizaguirre G, Rodriguez I, De la Vieja A, Costamagna E, Carrasco N, Nistal M, et al. The BRAFV600E oncogene induces transforming growth factor beta secretion leading to sodium iodide symporter repression and increased malignancy in thyroid cancer. Cancer Res. 2009;69(21):8317-25.
15. Durand S, Ferraro-Peyret C, Joufre M, Chave A, Borson-Chazot F, Selmi-Ruby S, et al. Molecular characteristics of papillary thyroid carcinomas without BRAF mutation or RET/PTC rearrangement: Relationship with clinico-pathological features. Endocr Relat Cancer. 2009;16(2):467-81.
16. Oler G, Camacho CP, Hojaij FC, Michaluart Jr. P, Riggins GJ, Cerutti JM. Gene expression profiling of papillary thyroid carcinoma identifies transcripts correlated with BRAF mutational status and lymph node metastasis. Clin Cancer Res. 2008;14(15):4735-42.
17. Watanabe R, Hayashi Y, Sassa M, Kikumori T, Imai T, Kiuchi T, et al. Possible involvement of BRAFV600E in altered gene expression in papillary thyroid cancer. Endocr J. 2009;56(3):407-14.
18. Guan H, Ji M, Bao R, Yu H, Wang Y, Hou P, et al. Association of high iodine intake with the T1799A BRAF mutation in papillary thyroid cancer. J Clin Endocrinol Metabol. 2009;94(5):1612-7.
19. Zou M, Baitei EY, Alzahrani AS, Al-Mohanna F, Farid NR, Meyer B, et al. Oncogenic activation of MAP kinase by BRAF pseudogene in thyroid tumors. Neoplasia. 2009;11(1):57-65.
20. Nikiforov YE. RET/PTC rearrangement in thyroid tumors. Endocr Pathol. 2002;13(1):3-16.
21. Nikiforova MN, Nikiforov YE. Molecular genetics of thyroid cancer: Implications for diagnosis, treatment and prognosis. Expert Rev Mol Diagn. 2008;8(1):83-95.
22. Gandhi M, Dillon LW, Pramanik S, Nikiforov YE, Wang YH. DNA breaks at fragile sites generate oncogenic RET/PTC rearrangements in human thyroid cells. Oncogene. 2010;29(15):2272-80.
23. Henderson YC, Shellenberger TD, Williams MD, El-Naggar AK, Fredrick MJ, Cieply KM, et al. High rate of BRAF and RET/PTC dual mutations associated with recurrent papillary thyroid carcinoma. Clin Cancer Res. 2009;15(2):485-91.
24. Rivera M, Ricarte-Filho J, Knauf J, Shaha A, Tuttle M, Fagin JA, et al. Molecular genotyping of papillary thyroid carcinoma follicular variant according to its histological subtypes (encapsulated vs infiltrative) reveals distinct BRAF and RAS mutation patterns. Mod Pathol. 2010;23(9):1191-200.
25. Nikiforov YE. Molecular diagnostics of thyroid tumors. Arch Pathol Lab Med. 2011;135(5):569-77.
26. Greco A, Miranda C, Pierotti MA. Rearrangements of NTRK1 gene in papillary thyroid carcinoma. Mol Cell Endocrinol. 2010;321(1):44-9.
27. Russell JP, Powell DJ, Cunnane M, Greco A, Portella G, Santoro M, et al. The TRK-T1 fusion protein induces neoplastic transformation of thyroid epithelium. Oncogene. 2000;19(50): 5729-35.
28. Bongarzone I, Fugazzola L, Vigneri P, Mariani L, Mondellini P, Pacini F, et al. Age-related activation of the tyrosine kinase receptor protooncogenes RET and NTRK1 in papillary thyroid carcinoma. J Clin Endocrinol Metab. 1996;81(5):2006-9.
29. Porto T, Coelho I, Boavida J, Pereira C, Nunes JM, Mendonca D, et al. Association of HLA DQ4-DR8 haplotype with papillary thyroid carcinomas. Clin Endocrinol (Oxf). 2006;64(2): 179-83.
30. Haghpanah V, Khalooghi K, Adabi K, Amiri P, Tavangar SM, Amirzargar A, et al. Associations between HLA-C alleles and papillary thyroid carcinoma. Cancer Biomark. 2009;5(1):19-22.
31. Amoli MM, Yazdani N, Amiri P, Sayahzadeh F, Haghpanah V, Tavangar SM, et al. HLA-DR association in papillary thyroid carcinoma. Dis Markers. 2010;28(1):49-53.
32. Jo YS, Lee JC, Li S, Choi YS, Bai YS, Kim YJ, et al. Significance of the expression of major histocompatibility complex class II antigen, HLA-DR and -DQ, with recurrence of papillary thyroid cancer. Int J Cancer. 2008;122(4):785-90.
33. Zitzelsberger H, Thomas G, Unger K. Chromosomal aberrations in thyroid follicular-cell neoplasia: In the search of novel oncogenes and tumour suppressor genes. Mol Cell Endocrinol. 2010;321(1):57-66.
34. Caria P, Vanni R. Cytogenetic and molecular events in adenoma and well-differentiated thyroid follicular-cell neoplasia. Cancer Genet Cytogenet. 2010;203(1):21-9.
35. Kroll TG, Sarraf P, Pecciarini L, Chen CJ, Mueller E, Spiegelman BM, et al. PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected]. Science. 2000;289(5483): 1357-60.
36. Giordano TJ. Genome-wide studies in thyroid neoplasia. Endocrinol Metab Clin North Am. 2008;37(2):311-31.
37. Eberhardt NL, Grebe SKG, McIver B, Reddi HV. The role of the PAX8/PPARgamma fusion oncogene in the pathogenesis of follicular thyroid cancer. Mol Cell Endocrinol. 2010;321(1):50-6.
38. Learoyd DL, Messina M, Zedenius J, Robinson BG. Molecular genetics of thyroid tumors and surgical decision-making. World J Surg. 2000;24(8):923-33.
39. Castro P, Soares P, Gusmao L, Seruca R, Sobrinho-Simoes M. H-RAS 81 polymorphism is significantly associated with aneuploidy in follicular tumors of the thyroid. Oncogene. 2006;25(33):4620-7.
40. Antonelli A, Ferrari SM, Fallahi P, Berti P, Materazzi G, Marchetti I, et al. Evaluation of the sensitivity to chemotherapeutics or thiazolidinediones of primary anaplastic thyroid cancer cells obtained byfine-needle aspiration. Eur J Endocrinol. 2008;159(3):283-91.
41. Maximo V, Sobrinho-Simoes M. Hurthle cell tumours of the thyroid. A review with emphasis on mitochondrial abnormalities with clinical relevance. Virchows Archiv. 2000;437(2): 107-15.
42. Sobrinho-Simoes M, Preto A, Rocha AS, Castro P, Maximo V, Fonseca E, et al. Molecular pathology of well-differentiated thyroid carcinomas. Virchows Arch. 2005;447(5):787-93.
43. Pacifico F, Crescenzi E, Mellone S, Iannetti A, Porrino N, Liguoro D, et al. Nuclear factor-{kappa}B contributes to anaplastic thyroid carcinomas through up-regulation of miR-146a. J Clin Endocrinol Metabol. 2010;95(3):1421-30.
44. Kojic SL, Strugnell SS, Wiseman SM. Anaplastic thyroid cancer: A comprehensive review of novel therapy. Expert Rev Anticancer Ther. 2011;11(3):387-402.
45. Smallridge RC, Marlow LA, Copland JA. Anaplastic thyroid cancer: Molecular pathogenesis and emerging therapies. Endocr Relat Cancer. 2009;16(1):17-44.
46. Volante M, Rapa I, Gandhi M, Bussolati G, Giachino D, Papotti M, et al. RAS mutations are the predominant molecular alteration in poorly differentiated thyroid carcinomas and bear prognostic impact. J Clin Endocrinol Metab. 2009;94(12):4735-41.
47. Nikiforov YE. Genetic alterations involved in the transition from well-differentiated to poorly differentiated and anaplastic thyroid carcinomas. Endocr Pathol. 2004;15(4):319-27.
48. Kim TH, Lee SY, Rho JH, Jeong NY, Soung YH, Jo WS, et al. Mutant p53 (G199V) gains antiapoptotic function through signal transducer and activator of transcription 3 in anaplastic thyroid cancer cells. Mol Cancer Res. 2009;7(10):1645-54.
49. Salerno P, Garcia-Rostan G, Piccinin S, Bencivenga TC, Di Maro G, Doglioni C, et al. TWIST1 plays a pleiotropic role in determining the anaplastic thyroid cancer phenotype. J Clin Endocrinol Metabol. 2011;96(5):E772-81.
50. Gauchotte G, Philippe C, Lacomme S, Leotard B, Wissler MP, Allou L, et al. BRAF, p53 and SOX2 in anaplastic thyroid carcinoma: Evidence for multistep carcinogenesis. Pathology. 2011;43:447-52.
51. Nakachi K, Hayashi T, Hamatani K, Eguchi H, Kusunoki Y. Sixty years of follow-up of Hiroshima and Nagasaki survivors: Current progress in molecular epidemiology studies. Mutat Res. 2008;659(1-2):109-17
52. Ermak G, Figge JJ, Kartel NA, Davies KJA. Genetic aberrations in Chernobyl-related thyroid cancers: Implications for possible future nuclear accidents or nuclear attacks. IUBMB Life. 2003;55(12):637-41.
53. Hamatani K, Eguchi H, Ito R, Mukai M, Takahashi K, Taga M, et al. RET/PTC rearrangements preferentially occurred in papillary thyroid cancer among atomic bomb survivors exposed to high radiation dose. Cancer Res. 2008;68(17):7176-82.
54. Levin RJ. Incidence of thyroid cancer in residents surrounding the Three Mile Island nuclear facility. Laryngoscope. 2008;118(4):618-28.
55. Xing M. Prognostic utility of BRAF mutation in papillary thyroid cancer. Mol Cell Endocrinol. 2010;321(1):86-93.
56. Nikiforov YE. Molecular analysis of thyroid tumors. Mod Pathol. 2011;24(2):34-43.
57. Guerra A, Sapio MR, Marotta V, Campanile E, Moretti MI, Deandrea M, et al. Prevalence of RET/PTC rearrangement in benign and malignant thyroid nodules and its clinical application. Endocr J. 2011;58(1):31-8.
58. Kitano M, Rahbari R, Patterson EE, Xiong Y, Prasad NB, Wang Y, et al. Expression profiling of difficult-To-diagnose thyroid histologic subtypes shows distinct expression profiles and identify candidate diagnostic microRNAs. Ann Surg Oncol. 2011;18:3443-52.
59. Cradic KW, Milosevic D, Rosenberg AM, Erickson LA, McIver B, Grebe SK. Mutant BRAF(T1799A) can be detected in the blood of papillary thyroid carcinoma patients and correlates with disease status. J Clin Endocrinol Metabol. 2009;94(12):5001-9.
60. Espinosa AV, Porchia L, Ringel MD. Targeting BRAF in thyroid cancer. Br J Cancer. 2007;96(1):16-20.
61. Salerno P, De Falco V, Tamburrino A, Nappi TC, Vecchio G, Schweppe RE, et al. Cytostatic activity of adenosine triphosphate-competitive kinase inhibitors in BRAF mutant thyroid carcinoma cells. J Clin Endocrinol Metabol. 2010;95(1):450-5.
62. Nucera C, Nehs MA, Nagarkatti SS, Sadow PM, Mekel M, Fischer AH, et al. Targeting BRAFV600E with PLX4720 displays potent antimigratory and anti-invasive activity in preclinical models of human thyroid cancer. Oncologist. 2011;16(3):296-309.
63. Xing J, Liu R, Xing M, Trink B. The BRAFT1799A mutation confers sensitivity of thyroid cancer cells to the BRAFV600E inhibitor PLX4032 (RG7204). Biochem Biophys Res Commun. 2011;404(4):958-62.
64. Woyach JA, Shah MH. New therapeutic advances in the management of progressive thyroid cancer. Endocr Relat Cancer. 2009;16(3):715-31.
65. Hong DS, Cabanillas ME, Wheler J, Naing A, Tsimberidou AM, Ye L, et al. Inhibition of the Ras/Raf/MEK/ERK and RET kinase pathways with the combination of the multikinase inhibitor sorafenib and the farnesyltransferase inhibitor tipifarnib in medullary and differentiated thyroid malignancies. J Clin Endocrinol Metab. 2011;96(4):997-1005.
66. Sherman SI. Targeted therapy of thyroid cancer. Biochem Pharmacol. 2010;80(5):592-601.
67. Schweppe RE, Kerege AA, Sharma V, Poczobutt JM, Gutierrez-Hartmann A, Grzywa RL, et al. Distinct genetic alterations in the mitogen-Activated protein kinase pathway dictate sensitivity of thyroid cancer cells to mitogen-Activated protein kinase kinase 1/2 inhibition. Thyroid. 2009;19(8):825-35.
68. Henderson YC, Ahn SH, Clayman GL. Inhibition of the growth of papillary thyroid carcinoma cells by CI-1040. Arch Otolaryngol Head Neck Surg. 2009;135(4):347-54.
69. Vivaldi A, Miasaki FY, Ciampi R, Agate L, Collecchi P, Capodanno A, et al. Re-differentiation of thyroid carcinoma cell lines treated with 5-Aza-2'-deoxycytidine and retinoic acid. Mol Cell Endocrinol. 2009;307(1-2):142-8.
70. Akagi T, Luong QT, Gui D, Said J, Selektar J, Yung A, et al. Induction of sodium iodide symporter gene and molecular characterisation of HNF3 beta/FoxA2, TTF-1 and C/EBP beta in thyroid carcinoma cells. Br J Cancer. 2008;99(5):781-8.
71. Fernandez CA, Puig-Domingo M, Lomena F, Estorch M, Camacho Marti V, Bittini AL, et al. Effectiveness of retinoic acid treatment for redifferentiation of thyroid cancer in relation to recovery of radioiodine uptake. J Endocrinol Invest. 2009;32(3):228-33.
72. Riesco-Eizaguirre G, Santisteban P. New insights in thyroid follicular cell biology and its impact in thyroid cancer therapy. Endocr-Relat Cancer. 2007;14(4):957-77.
73. Dumont JE, Lamy F, Roger P, Maenhaut C. Physiological and pathological regulation of thyroid cell proliferation and differentiation by thyrotropin and other factors. Physiol Rev. 1992;72(3):667-97.
74. Watanabe H, Gould MN, Mahler PA, Mulcahy RT, Clifton KH. The in fl uence of donor and recipient age and sex on the quantitative transplantation of monodispersed rat thyroid cells. Endocrinology. 1983;112(1):172-7.
75. Thomas T, Nowka K, Lan L, Derwahl M. Expression of endoderm stem cell markers: Evidence for the presence of adult stem cells in human thyroid glands. Thyroid. 2006;16(6):537-44.
76. Malaguarnera R, Frasca F, Garozzo A, Giani F, Pandini G, Vella V, et al. Insulin receptor isoforms and insulin-like growth factor receptor in human follicular cell precursors from papillary thyroid cancer and normal thyroid. J Clin Endocrinol Metab. 2011;96(3):766-74.
77. Lan L, Cui D, Nowka K, Derwahl M. Stem cells derived from goiters in adults form spheres in response to intense growth stimulation and require thyrotropin for differentiation into thyrocytes. J Clin Endocrinol Metab. 2007;92(9):3681-8.
78. Cannito S, Novo E, di Bonzo LV, Busletta C, Colombatto S, Parola M. Epithelial-mesenchymal transition: From molecular mechanisms, redox regulation to implications in human health and disease. Antioxid Redox Signal. 2010;12(12):1383-430.
79. Coclet J, Lamy F, Rickaert F, Dumont JE, Roger PP. Intermediatefilaments in normal thyrocytes: Modulation of vimentin expression in primary cultures. Mol Cell Endocrinol. 1991;76(1-3):135-48.
80. Coclet J, Foureau F, Ketelbant P, Galand P, Dumont JE. Cell population kinetics in dog and human adult thyroid. Clin Endocrinol (Oxf). 1989;31(6):655-65.
81. Riesco-Eizaguirre G, Rodriguez I, De la Vieja A, Costamagna E, Carrasco N, Nistal M, et al. The BRAFV600E oncogene induces transforming growth factor beta secretion leading to sodium iodide symporter repression and increased malignancy in thyroid cancer. Cancer Res. 2009;69(21):8317-25.
82. Zhu W, Hai T, Ye L, Cote GJ. Medullary thyroid carcinoma cell lines contain a self-renewing CD133+ population that is dependent on ret proto-oncogene activity. J Clin Endocrinol Metab. 2010;95(1):439-44.
83. Santarpia L, Ye L, Gagel R. Beyond RET: Potential therapeutic approaches for advanced and metastatic medullary thyroid carcinoma. J Intern Med. 2009;266(1):99-113.