Prevalence of BRAF Mutation in Papillary Thyroid Cancer

Year 2016, , 569 - 575, 25.12.2016

Shatha Dmour Ala’a Al - Maaitah Tunc Eren Ozgur Ekinci Orhan Alimoglu

https://doi.org/10.5798/diclemedj.0921.2015.01.0521

Abstract

Objectives: Papillary thyroid cancer (PTC) is the most
common endocrine malignancy and the most common genetic anomaly with
PTC is the BRAF V600E mutation. This mutation is linked to many clinical
and pathological features and may have a diagnostic and therapeutic
role especially in the era of targeted therapy. The aim of this study is
to review the prevalence of BRAF V600E mutation in PTC, its
distribution according to the histological subtype and geographic area
and its association with the age of patients, gender, subtype and
recurrence of tumors.

Methods: The Pubmed database was searched to look for
articles about BRAF mutation in PTC. Outcomes of interest included
prevalence, age, gender, country, subtype and recurrence.

Results: The prevalence of BRAF V600E mutation in PTC
was 47%, with noticeably higher prevalence in the eastern countries. The
prevalence of BRAF V600E was also higher in the tall and classic
subtypes and could be associated with worse prognosis and higher risk of
recurrence.

Conclusions: The BRAF mutation, which is more prevalent in the eastern countries, is determined to be an important molecular marker for PTC.

Keywords

Papillary thyroid cancer, BRAF mutation

References

• 1. Pellegriti G, Frasca F, Regalbuto C, et al. Worldwide increasing incidence of thyroid cancer: update on epidemiology and risk factors. J Cancer Epidemiol. 2013;2013:965212.
• 2. Enewold L, Zhu K, Ron E, et al. Rising thyroid cancer incidence in the United States by demographic and tumor characteristics, 1980–2005. Cancer Epidemiol Biomarkers Prev. 2009;18:784–91
• 3. Hundahl SA, Fleming ID, Fremgen AM, Menck HR. A National Cancer Data Base report on 53,856 cases of thyroid carcinoma treated in the U.S., 1985-1995. Cancer. 1998;83:2638-48.
• 4. Wylie D, Beaudenon Huibregtse S, Haynes BC, et al. Molecular classification of thyroid lesions by combined testing for miRNA gene expression and somatic gene alterations. J Pathol Clin Res. 2016;2:93-103.
• 5. Peyssonnaux C, Eychène A. The Raf/MEK/ERK pathway: new concepts of activation. Biol Cell. 2001;93:53-62.
• 6. Song YS, Lim JA, Park YJ. Mutation Profile of Well Differentiated Thyroid Cancer in Asians. Endocrinol Metab (Seoul). 2015;30:252-62.
• 7. Garnett MJ, Marais R. Guilty as charged: B-RAF is a human oncogene. Cancer Cell. 2004;6:313-9.
• 8. Cohen Y, Xing M, Mambo E, et al. BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst. 2003;95:625-7.
• 9. Xing M. Recent advances in molecular biology of thyroid cancer and their clinical implications. Otolaryngol Clin North Am. 2008;41:1135-46.
• 10. Lundgren CI, Hall P, Dickman PW, Zedenius J. Influence of surgical and postoperative treatment on survival in differentiated thyro
• id cancer. Br J Surg. 2007;94:571-7.
• 11. Tufano RP, Teixeira GV, Bishop J, et al. BRAF mutation in papillary thyroid cancer and its value in tailoring initial treatment: a systematic review and meta-analysis. Medicine (Baltimore). 2012;91:274-86.
• 12. Schulten HJ, Salama S, Al-Mansouri Z, et al. BRAF mutations in thyroid tumors from an ethnically diverse group. Hered Cancer Clin Pract. 2012;10:10.
• 13. Nikiforova MN, Kimura ET, Gandhi M, et al. BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab. 2003;88:5399-404.
• 14. Elisei R, Ugolini C, Viola D, et al. BRAF(V600E) mutation and outcome of patients with papillary thyroid carcinoma: a 15-year median followup study. J Clin Endocrinol Metab. 2008;93:3943-9.
• 15. Hay ID, Bergstralh EJ, Goellner JR, et al. Predicting outcome in papillary thyroid carcinoma: development of a reliable prognostic scoring system in a cohort of 1779 patients surgically treated at one institution during 1940 through 1989. Surgery. 1993;114:1050-7; discussion 1057-8.
• 16. Basolo F, Torregrossa L, Giannini R, 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;95:4197-205.
• 17. Lupi C, Giannini R, Ugolini C, et al. Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma. J Clin Endocrinol Metab. 2007;92:4085-90.
• 18. Riesco Eizaguirre G, Gutiérrez Martínez P, García Cabezas MA, et al. The oncogene BRAF V600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/Itargeting to the membrane. Endocr Relat Cancer. 2006;13:257-69.
• 19. Ma YJ, Deng XL, Li HQ. BRAF(V⁶⁰⁰E) mutation and its association with clinicopathological features of papillary thyroid microcarcinoma: A metaanalysis. J Huazhong Univ Sci Technolog Med Sci. 2015;35:591-9.
• 20. Lee JH, Lee ES, Kim YS. Clinicopathologic significance of BRAF V600E mutation in papillary carcinomas of the thyroid: a metaanalysis. Cancer. 2007;110:38-46.
• 21. Xing M, Westra WH, Tufano RP, et al. BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab. 2005;90:6373-9.
• 22. Li F, Chen G, Sheng C, et al. BRAFV600E mutation in papillary thyroid microcarcinoma: a metaanalysis. Endocr Relat ancer. 2015;22:159-68.
• 23. Xu X, Quiros RM, Gattuso P, et al. High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines. Cancer Res. 2003;63:4561-7.
• 24. Kim SK, Woo JW, Lee 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;158:1500-11.
• 25. Xing M, Alzahrani AS, Carson KA, et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA. 2013;309:1493–1501.
• 26. Koperek O, Kornauth C, Capper D, et al. Immunohistochemical detection of the BRAF V600E-mutated protein in papillary thyroid carcinoma. Am J Surg Pathol. 2012;36:844-50.
• 27. Li C, Aragon Han P, Lee KCet al. Does BRAF V600E mutation predict aggressive features in papillary thyroid cancer? Results from four endocrine surgery centers. J Clin Endocrinol Metab. 2013;98:3702-12.
• 28. Xing M, Alzahrani AS, Carson KA, et al. Association between BRAF V600E mutation and recurrence of papillary thyroid cancer. J Clin Oncol. 2015;33:42-50.
• 29. Nakayama H, Yoshida A, Nakamura Y, et al. Clinical significance of BRAF (V600E) mutation and Ki67 labeling index in papillary thyroid carcinomas. Anticancer Res. 2007;27(5B):3645-9.
• 30. Henderson YC, Shellenberger TD, Williams MD, et al. High rate of BRAF and RET/PTC dual mutations associated with recurrent papillary thyroid carcinoma. Clin Cancer Res. 2009;15:485-91.
• 31. Schlumberger MJ. Papillary and follicular thyroid carcinoma. N Engl J Med. 1998;338:297-306.
• 32. Jo YS, Li S, Song JH, et al. Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary t
• hyroid cancer J Clin Endocrinol Metab. 2006;91:3667-70.
• 33. Kebebew E, Weng J, Bauer J, et al. The prevalence and prognostic value of BRAF mutation in thyroid cancer. Ann Surg. 2007;246:466-70; discussion 470-1.