THE ROLE OF GENETIC TESTING IN THE DIAGNOSIS AND SUBSEQUENT TREATMENT OF THYROID CANCER
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How to Cite

Gvaramadze, G., Mardaleishvili, K., Makaridze, T., Gviniashvili, D., & Sulava, A. (2023). THE ROLE OF GENETIC TESTING IN THE DIAGNOSIS AND SUBSEQUENT TREATMENT OF THYROID CANCER. Collection of Scientific Works of Tbilisi State Medical University, 56, 39–42. Retrieved from https://journals.4science.ge/index.php/CSW/article/view/2269

Abstract

Thus, genetic testing of nodular formations of the thyroid gland allows:

  • To determine malignancy in cytological samples of -3/-4/- 5 category classified by the Bethesda system
  • Stratify patients according to the exact percentage risk of malignancy
  • To determine the necessity and extent of surgical intervention (total or partial thyroidectomy or lobectomy)
  • Predict the risk of less sensitivity (or response) to radioactive iodine therapy
  • In special cases, such as children’s or elderly age, pregnancy or other difficult situations, plan a scheme of dynamic observation and scientifically justified control of the patient.
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References

Xing M. Prognostic utility of BRAF mutation in papillary thyroid cancer. Mol Cell Endocrinol. 2010;321:86–93. [PMC free article] [PubMed] [Google Scholar]

Xing M, Alzahrani AS, Carson KA, Viola D, Elisei R, Bendlova B, et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA. 2013;309:1493–1501. [PMC free article] [PubMed] [Google Scholar]

Ito Y, Yoshida H, Maruo R, Morita S, Takano T, Hirokawa M, et al. BRAF mutation in papillary thyroid carcinoma in a Japanese population: its lack of correlation with high-risk clinicopathological features and disease-free survival of patients. Endocr J. 2009;56:89–97. [PubMed] [Google Scholar]

Kim TY, Kim WB, Song JY, Rhee YS, Gong G, Cho YM,et al. The BRAF mutation is not associated with poor prognostic factors in Korean patients with conventional papillary thyroid microcarcinoma. Clin Endocrinol (Oxf) 2005;63:588– 593. [PubMed] [Google Scholar]

Kim SK, Song KH, Lim SD, Lim YC, Yoo YB, Kim JS, et al. Clinical and pathological features and the BRAF(V600E) mutation in patients with papillary thyroid carcinoma with and without concurrent Hashimoto thyroiditis. Thyroid. 2009;19:137–141. [PubMed] [Google Scholar]

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 Metab. 2009;94:1612–1617. [PubMed] [Google Scholar]

Hong AR, Lim JA, Kim TH, Choi HS, Yoo WS, Min HS, et al. The frequency and clinical implications of the BRAF(V600E) mutation in papillary thyroid cancer patients in Korea over the past two decades. Endocrinol Metab (Seoul) 2014;29:505–513. [PMC free article] [PubMed] [Google Scholar]

Jung CK, Little MP, Lubin JH, Brenner AV, Wells SA, Jr, Sigurdson AJ, et al. The increase in thyroid cancer incidence during the last four decades is accompanied by a high frequency of BRAF mutations and a sharp increase in RAS mutations. J Clin Endocrinol Metab. 2014;99:E276–E285. [PMC free article] [PubMed] [Google Scholar]

Kim SK, Woo JW, Lee JH, Park I, Choe JH, Kim JH, et al. Role of BRAF V600E mutation as an indicator of the extent of thyroidectomy and lymph node dissection in conventional papillary thyroid carcinoma. Surgery. 2015 Jun 25; doi: 10.1016/ j.surg.2015.05.016. [Epub] [PubMed] [CrossRef] [Google Scholar]

Takahashi K, Eguchi H, Arihiro K, Ito R, Koyama K, Soda M, et al. The presence of BRAF point mutation in adult papillary thyroid carcinomas from atomic bomb survivors correlates with radiation dose. Mol Carcinog. 2007;46:242– 248. [PubMed] [Google Scholar]

Ito Y, Yoshida H, Kihara M, Kobayashi K, Miya A, Miyauchi A. BRAF(V600E) mutation analysis in papillary thyroid carcinoma: is it useful for all patients? World J Surg. 2014;38:679–687. [PubMed] [Google Scholar]

Liu S, Zhang B, Zhao Y, Chen P, Ji M, Hou P, et al. Association of BRAFV600E mutation with clinicopathological features of papillary thyroid carcinoma: a study on a Chinese population. Int J Clin Exp Pathol. 2014;7:6922–6928. [PMC free article] [PubMed] [Google Scholar]

Lu J, Gao J, Zhang J, Sun J, Wu H, Shi X, et al. Association between BRAF V600E mutation and regional lymph node metastasis in papillary thyroid carcinoma. Int J Clin Exp Pathol. 2015;8:793–799. [PMC free article] [PubMed] [Google Scholar]

Liu RT, Chen YJ, Chou FF, Li CL, Wu WL, Tsai PC, et al. No correlation between BRAFV600E mutation and clinicopathological features of papillary thyroid carcinomas in Taiwan. Clin Endocrinol (Oxf) 2005;63:461–466. [PubMed] [Google Scholar]

Oler G, Cerutti JM. High prevalence of BRAF mutation in a Brazilian cohort of patients with sporadic papillary thyroid carcinomas: correlation with more aggressive phenotype and decreased expression of iodide-metabolizing genes. Cancer. 2009;115:972–980. [PubMed] [Google Scholar]

Frasca F, Nucera C, Pellegriti G, Gangemi P, Attard M, Stella M, et al. BRAF(V600E) mutation and the biology of papillary thyroid cancer. Endocr Relat Cancer. 2008;15:191– 205. [PubMed] [Google Scholar]

Basolo F, Torregrossa L, Giannini R, Miccoli M, Lupi C, Sensi E, et al. Correlation between the BRAF V600E mutation and tumor invasiveness in papillary thyroid carcinomas smaller than 20 millimeters: analysis of 1060 cases. J Clin Endocrinol Metab. 2010;95:4197–4205. [PubMed] [Google Scholar]

Sykorova V, Dvorakova S, Ryska A, Vcelak J, Vaclavikova E, Laco J, et al. BRAFV600E mutation in the pathogenesis of a large series of papillary thyroid carcinoma in Czech Republic. J Endocrinol Invest. 2010;33:318–324. [PubMed] [Google Scholar]

Musholt TJ, Fottner C, Weber MM, Eichhorn W, Pohlenz J, Musholt PB, et al. Detection of papillary thyroid carcinoma by analysis of BRAF and RET/PTC1 mutations in fine-needle aspiration biopsies of thyroid nodules. World J Surg. 2010;34:2595–2603. [PubMed] [Google Scholar]

Murray CW, Egan SK, Kim H, Beru N, Bolger PM. US Food and Drug Administration’s Total Diet Study: dietary intake of perchlorate and iodine. J Expo Sci Environ Epidemiol. 2008;18:571–580. [PubMed] [Google Scholar]

Ministry of Health, Labour and Welfare. Dietary reference intakes for Japanese. Tokyo: National Institute of Health and Nutrition; 2010. [Google Scholar]

Kim KW, Park YJ, Kim EH, Park SY, Park do J, Ahn SH, et al. Elevated risk of papillary thyroid cancer in Korean patients with Hashimoto’s thyroiditis. Head Neck. 2011;33:691– 695. [PubMed] [Google Scholar]

Fukahori M, Yoshida A, Hayashi H, Yoshihara M, Matsukuma S, Sakuma Y, et al. The associations between RAS mutations and clinical characteristics in follicular thyroid tumors: new insights from a single center and a large patient cohort. Thyroid. 2012;22:683–689. [PubMed] [Google Scholar]

Jang EK, Song DE, Sim SY, Kwon H, Choi YM, Jeon MJ, et al. NRAS codon 61 mutation is associated with distant metastasis in patients with follicular thyroid carcinoma. Thyroid. 2014;24:1275–1281. [PMC free article] [PubMed] [Google Scholar]

Kim HJ, Jang HW, Sohn SY, Choi YL, Kim HJ, Oh YL, et al. Frequency of RAS mutations and PAX8/PPARgamma rearrangement in follicular thyroid tumors in Korea. Endocrinol Metab (Seoul) 2012;27:45–53. [Google Scholar]

Park JY, Kim WY, Hwang TS, Lee SS, Kim H, Han HS, et al. BRAF and RAS mutations in follicular variants of papillary thyroid carcinoma. Endocr Pathol. 2013;24:69–76. [PubMed] [Google Scholar]

Jeong SH, Hong HS, Kwak JJ, Lee EH. Analysis of RAS mutation and PAX8/PPARgamma rearrangements in follicular-derived thyroid neoplasms in a Korean population: frequency and ultrasound findings. J Endocrinol Invest. 2015;38:849–857. [PubMed] [Google Scholar]

Lee SR, Jung CK, Kim TE, Bae JS, Jung SL, Choi YJ, et al. Molecular genotyping of follicular variant of papillary thyroid carcinoma correlates with diagnostic category of fineneedle aspiration cytology: values of RAS mutation testing. Thyroid. 2013;23:1416–1422. [PMC free article] [PubMed] [Google Scholar]

Kikuchi Y, Tsuji E, Yagi K, Matsusaka K, Tsuji S, Kurebayashi J, et al. Aberrantly methylated genes in human papillary thyroid cancer and their association with BRAF/ RAS mutation. Front Genet. 2013;4:271. [PMC free article] [PubMed] [Google Scholar]

Guo HQ, Zhao H, Zhang ZH, Zhu YL, Xiao T, Pan QJ. Impact of molecular testing in the diagnosis of thyroid fine needle aspiration cytology: data from mainland China. Dis Markers. 2014;2014:912182. [PMC free article] [PubMed] [Google Scholar]

Liu RT, Hou CY, You HL, Huang CC, Hock L, Chou FF, et al. Selective occurrence of ras mutations in benign and malignant thyroid follicular neoplasms in Taiwan. Thyroid. 2004;14:616–621. [PubMed] [Google Scholar]

Nikiforova MN, Lynch RA, Biddinger PW, Alexander EK, Dorn GW, 2nd, Tallini G, et al. RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma. J Clin Endocrinol Metab. 2003;88:2318–2326. [PubMed] [Google Scholar]

Zhu Z, Gandhi M, Nikiforova MN, Fischer AH, Nikiforov YE. Molecular profile and clinical-pathologic features of the follicular variant of papillary thyroid carcinoma. An unusually high prevalence of ras mutations. Am J Clin Pathol. 2003;120:71–77. [PubMed] [Google Scholar]

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;23:1191–1200. [PMC free article] [PubMed] [Google Scholar]

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