BRAF gene mutation (V600E) in aspiration cytology of patients with suspected papillary thyroid carcinoma
Introduction: This study was attempted to investigate the prevalence of BRAF gene mutation (V600E) in aspiration cytology of patients with suspected papillary thyroid carcinoma (PTC).
Materials and methods: Seventy six Patients suspected of having PTC who referred for fine needle aspiration (FNA) biopsy were included in this cross-sectional study. Ultrasound-guided FNA was taken from the thyroid masses and samples were sent for cytologic evaluation. Simultaneously, the samples were sent to a genetic laboratory to check the status of BRAFV600E mutation. Patients with FNA positive for PTC were assigned in one group and those with FNA negative for PTC were assigned in other group. Cytological and molecular results were compared with those of histopathology and sonography.
Results: The results showed that the prevalence of the BRAF gene (V600E) mutation in our study was 21.1% (16 out of 76 patients). In addition the results showed a significant relation between gene mutation and pathologic findings so that the highest gene mutation was significantly detected in patients with FNA positive for PTC (p.value=0.001). Also, our results showed a significant relation between gene mutation and some sonographic findings (calcification, p.value=0.004) and no significant relation in the other sonographic findings (hypo echoic changes, p.value=1.12 and regular changes, p.value=0.194).
Conclusion: According to the results of the present study, BRAF mutation (V600E) can be an effective indicator for definitive diagnosis and primary treatment of PTC in suspected cases.
2. Grodski S, Delbridge L. An update on papillary microcarcinoma. Curr Opin Oncol 2009;21:1-4.
3. Tang K-T, Lee C-H. BRAF mutation in papillary thyroid carcinoma: pathogenic role and clinical implications. J Chin Med Assoc 2010;73:113-28.
4. Chuang TC, Chuang AY, Poeta L, Koch WM, Califano JA, Tufano RP. Detectable BRAF mutation in serum DNA samples from patients with papillary thyroid carcinomas. Head Neck 2010;32:229-34.
5. Xing M, Alzahrani AS, Carson KA, Shong YK, Kim TY, Viola D, et al. Association between BRAF V600E mutation and recurrence of papillary thyroid cancer. J Clin Oncol 2015;33:42-50.
6. 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;7:6922-8.
7. Liu C, Chen T, Liu Z. Associations between BRAF V600E and prognostic factors and poor outcomes in papillary thyroid carcinoma: a meta-analysis. World J Surg Oncol 2016;14:241.
8. Kim TY, Kim WB, Song JY, Rhee YS, Gong G, Cho YM, et al. The BRAFV600E mutation is not associated with poor prognostic factors in Korean patients with conventional papillary thyroid microcarcinoma. Clin Endocrinol (Oxf) 2005;63:588-93.
9. 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;63:461-6.
10. Yan C, Huang M, Li X, Wang T, Ling R. Relationship between BRAF V600E and clinical features in papillary thyroid carcinoma. Endocr Connect 2019;8:988-96.
11. Ayala MD, Rodríguez AE, González AB, Gabiña PM, Rodríguez TG, de Zarate ERO, et al. BRAF V600E mutation in papillary thyroid cancer and its effect on postoperative radioiodine (131I) therapy: should we modify our therapeutic strategy? Cir Esp (Engl Ed) 2018;96:276-82.
12. Chakraborty A, Narkar A, Mukhopadhyaya R, Kane S, D’Cruz A, Rajan M. BRAF V600E mutation in papillary thyroid carcinoma: significant association with node metastases and extra thyroidal invasion. Endocr Pathol 2012;23:83-93.
13. Czarniecka A, Oczko-Wojciechowska M, Barczyński M. BRAF V600E mutation in prognostication of papillary thyroid cancer (PTC) recurrence. Gland Surg 2016;5:495-505.
14. Xing M. BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications. Endocr Rev 2007;28:742-62.
15. Moon HJ, Kim E-K, Chung WY, Choi JR, Yoon JH, Kwak JY. Diagnostic value of BRAF V600E mutation analysis of thyroid nodules according to ultrasonographic features and the time of aspiration. Ann Surg Oncol 2011;18:792-9.
16. Marchetti I, Iervasi G, Mazzanti CM, Lessi F, Tomei S, Naccarato AG, et al. Detection of the BRAF V600E mutation in fine needle aspiration cytology of thyroid papillary microcarcinoma cells selected by manual macrodissection: an easy tool to improve the preoperative diagnosis. Thyroid 2012;22:292-8.
17. Pelizzo MR, Boschin IM, Toniato A, Pagetta C, Piotto A, Bernante P, et al. Natural history, diagnosis, treatment and outcome of papillary thyroid microcarcinoma (PTMC): a mono-institutional 12-year experience. Nucl Med Commun 2004;25:547-52.
18. Noguchi S, Yamashita H, Uchino S, Watanabe S. Papillary microcarcinoma. World J Surg 2008;32:747-53.
19. Nucera C, Pontecorvi A. Clinical outcome, role of BRAFV600E, and molecular pathways in papillary thyroid microcarcinoma: is it an indolent cancer or an early stage of papillary thyroid cancer? Front Endocrinol 2012;3:33.
20. Xing M. Prognostic utility of BRAF mutation in papillary thyroid cancer. Molecular and cellular endocrinology. 2010;321:86-93.
21. Xing M. BRAF mutation in papillary thyroid microcarcinoma: the promise of better risk management. Ann Surg Oncol 2009;16:801-3.
22. Kwak JY, Kim EK, Chung WY, Moon HJ, Kim MJ, Choi JR. Association of BRAFV600E mutation with poor clinical prognostic factors and US features in Korean patients with papillary thyroid microcarcinoma. Radiology 2009;253:854-60.
23. Mazzaferri EL, Jhiang SM. Long-term impact of initial surgical and medical therapy on papillary and follicular thyroid cancer. Am J Med 1994;97:418-28.
24. Hwang J, Hee Shin J, Han BK, Ko EY, Kang SS, Kim JW, et al. Papillary thyroid carcinoma with BRAF V600E mutation: Sonographic prediction. AJR Am J Roentgenol 2010;194:W425-W30.
25. Park AY, Son EJ, Kim JA, Youk JH, Park YJ, Park CS, et al. Associations of the braf v600e mutation with sonographic features and clinicopathologic characteristics in a large population with conventional papillary thyroid carcinoma. PloS one 2014;9:e110868.
26. Tufano RP, Teixeira GV, Bishop J, Carson KA, Xing M. BRAF mutation in papillary thyroid cancer and its value in tailoring initial treatment: a systematic review and meta-analysis. Medicine 2012;91:274-86.
27. Zhang Q, Liu B-J, Ren W-W, He Y-P, Li X-L, Zhao C-K, et al. Association between BRAF V600E mutation and ultrasound features in papillary thyroid carcinoma patients with and without hashimoto’s thyroiditis. Sci Rep 2017;7:1-8.
28. Xing M, Clark D, Guan H, Ji M, Dackiw A, Carson KA, et al. BRAF mutation testing of thyroid fine-needle aspiration biopsy specimens for preoperative risk stratification in papillary thyroid cancer. J Clin Oncol 2009;27:2977-82
|Issue||Vol 59, No 9 (2021)|
|Papillary thyroid cancer Fine needle aspiration B-raf (V600E) Ultrasound|
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