Research advance on value of BRAF gene mutation assisted diagnosis of thyroid papillary carcinoma in thyroid nodule_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

TANG Liansha ^1,2 , HE Wenbo ² ,  LIU Feng ¹

1. Department of Thyroid Surgery, West China Hospital, Sichuan University, Chengdu 610041, P. R. China;
2. West China School of Medicine, Sichuan University, Chengdu 610041, P. R. China;

Corresponding author：

LIU Feng, Email: liufenghxjr@163.com

Keywords：

BRAF gene mutation; thyroid nodule; thyroid papillary cancer; assisted diagnosis

DOI：

10.7507/1007-9424.201902069

Video：

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Objective To investigate research advance on the value of B-type RAF kinase (BRAF) gene mutation assisted diagnosis of papillary thyroid cancer (PTC) in thyroid nodule.Method The recent literatures on the BRAF gene mutation and its combination with fine needle aspiration cytology (FNAC) in the diagnosis of benign and malignant thyroid nodules and PTC were collected and reviewed.Results The BRAF^V600E gene mutation was the most common type of gene mutation in the genetic molecule of PTC. The combination of the FNAC and BRAF gene mutation detection could improve the diagnostic value of the benign and malignant thyroid nodules, especially the diagnostic accuracy of PTC. However, the negative detection of BRAF gene mutation did not rule out the possibility of PTC. It still remained controversial that the detection of BRAF gene mutation could differentiate between the benign and malignant thyroid nodules.Conclusions BRAF gene mutation detection has different diagnostic values in different types of thyroid nodules. It has considerable diagnostic value in thyroid nodules with high BRAF mutation incidence (suspicious for malignancy, undetermined significance or follicular lesion of undetermined significance nodules) while presents false negative result in thyroid nodule with very low mutation incidence category to a large extent. BRAF gene detection might become a specific diagnostic molecular marker to promote diagnosis accuracy of PTC.

Citation： TANG Liansha, HE Wenbo, LIU Feng. Research advance on value of BRAF gene mutation assisted diagnosis of thyroid papillary carcinoma in thyroid nodule. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2019, 26(8): 1007-1010. doi: 10.7507/1007-9424.201902069 Copy

1.	Paschou SA, Vryonidou A, Goulis DG. Thyroid nodules: α guide to assessment, treatment and follow-up. Maturitas, 2017, 96: 1-9.
2.	Brito JP, Al Nofal A, Montori VM, et al. The impact of subclinical disease and mechanism of detection on the rise in thyroid cancer incidence: A population-based study in Olmsted County, Minnesota during 1935 through 2012. Thyroid, 2015, 25(9): 999-1007.
3.	Xing M. Molecular pathogenesis and mechanisms of thyroid cancer. Nat Rev Cancer, 2013, 13(3): 184-199.
4.	Jia Y, Yu Y, Li X, et al. Diagnostic value of B-RAF^V600E in difficult-to-diagnose thyroid nodules using fine-needle aspiration: systematic review and meta-analysis. Diagn Cytopathol, 2014, 42(1): 94-101.
5.	Tang KT, Lee CH. BRAF mutation in papillary thyroid carcinoma: pathogenic role and clinical implications. J Chin Med Assoc, 2010, 73(3): 113-128.
6.	Zhong LC, Lu F, Ma F, et al. Ultrasound-guided fine-needle aspiration of thyroid nodules: does the size limit its efficiency? Int J Clin Exp Pathol, 2015, 8(3): 3155-3159.
7.	Cha YJ, Pyo JY, Hong S, et al. Thyroid fine-needle aspiration cytology practice in Korea. J Pathol Transl Med, 2017, 51(6): 521-527.
8.	于波洋, 杨盼, 马步云, 等. 甲状腺乳头状癌 BRAF 基因表达及侵袭性研究. 中国普外基础与临床杂志, 2015, 22(7): 795-798.
9.	田文, 姚京. 甲状腺结节的临床评估. 中国普外基础与临床杂志, 2014, 21(9): 1066-1069.
10.	Fuller MY, Mody D, Hull A, et al. Next-generation sequencing identifies gene mutations that are predictive of malignancy in residual needle rinses collected from fine-needle aspirations of thyroid nodules. Arch Pathol Lab Med, 2018, 142(2): 178-183.
11.	Decaussin-Petrucci M, Descotes F, Depaepe L, et al. Molecular testing of BRAF, RAS and TERT on thyroid FNAs with indeterminate cytology improves diagnostic accuracy. Cytopathology, 2017, 28(6): 482-487.
12.	Wang Z, Chen JQ, Liu JL, et al. Clinical impact of BRAF mutation on the diagnosis and prognosis of papillary thyroid carcinoma: a systematic review and meta-analysis. Eur J Clin Invest, 2016, 46(2): 146-157.
13.	Fraser S, Go C, Aniss A, et al. BRAF^V600E mutation is associated with decreased disease-free survival in papillary thyroid cancer. World J Surg, 2016, 40(7): 1618-1624.
14.	Su X, Jiang X, Xu X, et al. Diagnostic value of BRAF^V600E-mutation analysis in fine-needle aspiration of thyroid nodules: a meta-analysis. Onco Targets Ther, 2016, 9: 2495-2509.
15.	Jinih M, Foley N, Osho O, et al. BRAF^V600E mutation as a predictor of thyroid malignancy in indeterminate nodules: A systematic review and meta-analysis. Eur J Surg Oncol, 2017, 43(7): 1219-1227.
16.	杨敬, 严淑萍, 龚艳萍, 等. BRAF^V600E 基因突变与中国甲状腺乳头状癌患者临床病理学特征间关系的 Meta 分析. 华西医学, 2016, 31(3): 467-479.
17.	Trimboli P, Treglia G, Condorelli E, et al. BRAF-mutated carcinomas among thyroid nodules with prior indeterminate FNA report: a systematic review and meta-analysis. Clin Endocrinol (Oxf), 2016, 84(3): 315-320.
18.	Xing M, Alzahrani AS, Carson KA, et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA, 2013, 309(14): 1493-1501.
19.	Xing M. BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications. Endocr Rev, 2007, 28(7): 742-762.
20.	Lee SE, Hwang TS, Choi YL, et al. Molecular profiling of papillary thyroid carcinoma in Korea with a high prevalence of BRAF thyroid, 2017, 27(6): 802-810.
21.	Chen D, Qi W, Zhang P, et al. Investigation of BRAF V600E detection approaches in papillary thyroid carcinoma. Pathol Res Pract, 2018, 214(2): 303-307.
22.	Kim JK, Seong CY, Bae IE, et al. Comparison of immunohistochemistry and direct sequencing methods for identification of the BRAF^V600E mutation in papillary thyroid carcinoma. Ann Surg Oncol, 2018, 25(6): 1775-1781.
23.	Collet JF, Lacave R, Hugonin S, et al. BRAF V600E detection in cytological thyroid samples: A key component of the decision tree for surgical treatment of papillary thyroid carcinoma. Head Neck, 2016, 38(7): 1017-1021.
24.	Zhang B, Liu S, Zhang Z, et al. Analysis of BRAF^V600E mutation and DNA methylation improves the diagnostics of thyroid fine needle aspiration biopsies. Diagn Pathol, 2014, 9: 45.
25.	Krane JF, Cibas ES, Alexander EK, et al. Molecular analysis of residual ThinPrep material from thyroid FNAs increases diagnostic sensitivity. Cancer Cytopathol, 2015, 123(6): 356-361.
26.	Hassell LA, Gillies EM, Dunn ST. Cytologic and molecular diagnosis of thyroid cancers: is it time for routine reflex testing? Cancer Cytopathol, 2012, 120(1): 7-17.
27.	Pongsapich W, Chongkolwatana C, Poungvarin N, et al. BRAF mutation in cytologically indeterminate thyroid nodules: after reclassification of a variant thyroid carcinoma. Onco Targets Ther, 2019, 12: 1465-1473.
28.	章美武, 张燕, 范晓翔, 等. 甲状腺细针穿刺细胞学联合 BRAF 基因检测的诊断价值. 介入放射学杂志, 2017, 26(7): 622-626.
29.	Kim DS, Kim DW, Heo YJ, et al. Utility of including BRAF mutation analysis with ultrasonographic and cytological diagnoses in ultrasonography-guided fine-needle aspiration of thyroid nodules. PLoS One, 2018, 13(8): e0202687.
30.	Cibas ES, Ali SZ. The 2017 Bethesda System for reporting thyroid cytopathology. Thyroid, 2017, 27(11): 1341-1346.
31.	Nikiforov YE, Ohori NP, Hodak SP, et al. Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples. J Clin Endocrinol Metab, 2011, 96(11): 3390-3397.
32.	Paek SH, Kim BS, Kang KH, et al. False-negative BRAF V600E mutation results on fine-needle aspiration cytology of papillary thyroid carcinoma. World J Surg Oncol, 2017, 15(1): 202.
33.	de Koster EJ, de Geus-Oei LF, Dekkers OM, et al. Diagnostic utility of molecular and imaging biomarkers in cytological indeterminate thyroid nodules. Endocr Rev, 2018, 39(2): 154-191.
34.	Park JY, Kim WY, Hwang TS, et al. BRAF and RAS mutations in follicular variants of papillary thyroid carcinoma. Endocr Pathol, 2013, 24(2): 69-76.
35.	An JH, Song KH, Kim SK, et al. RAS mutations in indeterminate thyroid nodules are predictive of the follicular variant of papillary thyroid carcinoma. Clin Endocrinol (Oxf), 2015, 82(5): 760-766.
36.	Nikiforov YE. Role of molecular markers in thyroid nodule management: then and now. Endocr Pract, 2017, 23(8): 979-988.
37.	Brown AE, Lim KS, Corpus G, et al. Detection of BRAF mutation in the cytocentrifugation supernatant fluid from fine-needle aspiration of thyroid lesions may enhance the diagnostic yield. Cytojournal, 2017, 14: 4.

1. Paschou SA, Vryonidou A, Goulis DG. Thyroid nodules: α guide to assessment, treatment and follow-up. Maturitas, 2017, 96: 1-9.
2. Brito JP, Al Nofal A, Montori VM, et al. The impact of subclinical disease and mechanism of detection on the rise in thyroid cancer incidence: A population-based study in Olmsted County, Minnesota during 1935 through 2012. Thyroid, 2015, 25(9): 999-1007.
3. Xing M. Molecular pathogenesis and mechanisms of thyroid cancer. Nat Rev Cancer, 2013, 13(3): 184-199.
4. Jia Y, Yu Y, Li X, et al. Diagnostic value of B-RAF^V600E in difficult-to-diagnose thyroid nodules using fine-needle aspiration: systematic review and meta-analysis. Diagn Cytopathol, 2014, 42(1): 94-101.
5. Tang KT, Lee CH. BRAF mutation in papillary thyroid carcinoma: pathogenic role and clinical implications. J Chin Med Assoc, 2010, 73(3): 113-128.
6. Zhong LC, Lu F, Ma F, et al. Ultrasound-guided fine-needle aspiration of thyroid nodules: does the size limit its efficiency? Int J Clin Exp Pathol, 2015, 8(3): 3155-3159.
7. Cha YJ, Pyo JY, Hong S, et al. Thyroid fine-needle aspiration cytology practice in Korea. J Pathol Transl Med, 2017, 51(6): 521-527.
8. 于波洋, 杨盼, 马步云, 等. 甲状腺乳头状癌 BRAF 基因表达及侵袭性研究. 中国普外基础与临床杂志, 2015, 22(7): 795-798.
9. 田文, 姚京. 甲状腺结节的临床评估. 中国普外基础与临床杂志, 2014, 21(9): 1066-1069.
10. Fuller MY, Mody D, Hull A, et al. Next-generation sequencing identifies gene mutations that are predictive of malignancy in residual needle rinses collected from fine-needle aspirations of thyroid nodules. Arch Pathol Lab Med, 2018, 142(2): 178-183.
11. Decaussin-Petrucci M, Descotes F, Depaepe L, et al. Molecular testing of BRAF, RAS and TERT on thyroid FNAs with indeterminate cytology improves diagnostic accuracy. Cytopathology, 2017, 28(6): 482-487.
12. Wang Z, Chen JQ, Liu JL, et al. Clinical impact of BRAF mutation on the diagnosis and prognosis of papillary thyroid carcinoma: a systematic review and meta-analysis. Eur J Clin Invest, 2016, 46(2): 146-157.
13. Fraser S, Go C, Aniss A, et al. BRAF^V600E mutation is associated with decreased disease-free survival in papillary thyroid cancer. World J Surg, 2016, 40(7): 1618-1624.
14. Su X, Jiang X, Xu X, et al. Diagnostic value of BRAF^V600E-mutation analysis in fine-needle aspiration of thyroid nodules: a meta-analysis. Onco Targets Ther, 2016, 9: 2495-2509.
15. Jinih M, Foley N, Osho O, et al. BRAF^V600E mutation as a predictor of thyroid malignancy in indeterminate nodules: A systematic review and meta-analysis. Eur J Surg Oncol, 2017, 43(7): 1219-1227.
16. 杨敬, 严淑萍, 龚艳萍, 等. BRAF^V600E 基因突变与中国甲状腺乳头状癌患者临床病理学特征间关系的 Meta 分析. 华西医学, 2016, 31(3): 467-479.
17. Trimboli P, Treglia G, Condorelli E, et al. BRAF-mutated carcinomas among thyroid nodules with prior indeterminate FNA report: a systematic review and meta-analysis. Clin Endocrinol (Oxf), 2016, 84(3): 315-320.
18. Xing M, Alzahrani AS, Carson KA, et al. Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA, 2013, 309(14): 1493-1501.
19. Xing M. BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications. Endocr Rev, 2007, 28(7): 742-762.
20. Lee SE, Hwang TS, Choi YL, et al. Molecular profiling of papillary thyroid carcinoma in Korea with a high prevalence of BRAF thyroid, 2017, 27(6): 802-810.
21. Chen D, Qi W, Zhang P, et al. Investigation of BRAF V600E detection approaches in papillary thyroid carcinoma. Pathol Res Pract, 2018, 214(2): 303-307.
22. Kim JK, Seong CY, Bae IE, et al. Comparison of immunohistochemistry and direct sequencing methods for identification of the BRAF^V600E mutation in papillary thyroid carcinoma. Ann Surg Oncol, 2018, 25(6): 1775-1781.
23. Collet JF, Lacave R, Hugonin S, et al. BRAF V600E detection in cytological thyroid samples: A key component of the decision tree for surgical treatment of papillary thyroid carcinoma. Head Neck, 2016, 38(7): 1017-1021.
24. Zhang B, Liu S, Zhang Z, et al. Analysis of BRAF^V600E mutation and DNA methylation improves the diagnostics of thyroid fine needle aspiration biopsies. Diagn Pathol, 2014, 9: 45.
25. Krane JF, Cibas ES, Alexander EK, et al. Molecular analysis of residual ThinPrep material from thyroid FNAs increases diagnostic sensitivity. Cancer Cytopathol, 2015, 123(6): 356-361.
26. Hassell LA, Gillies EM, Dunn ST. Cytologic and molecular diagnosis of thyroid cancers: is it time for routine reflex testing? Cancer Cytopathol, 2012, 120(1): 7-17.
27. Pongsapich W, Chongkolwatana C, Poungvarin N, et al. BRAF mutation in cytologically indeterminate thyroid nodules: after reclassification of a variant thyroid carcinoma. Onco Targets Ther, 2019, 12: 1465-1473.
28. 章美武, 张燕, 范晓翔, 等. 甲状腺细针穿刺细胞学联合 BRAF 基因检测的诊断价值. 介入放射学杂志, 2017, 26(7): 622-626.
29. Kim DS, Kim DW, Heo YJ, et al. Utility of including BRAF mutation analysis with ultrasonographic and cytological diagnoses in ultrasonography-guided fine-needle aspiration of thyroid nodules. PLoS One, 2018, 13(8): e0202687.
30. Cibas ES, Ali SZ. The 2017 Bethesda System for reporting thyroid cytopathology. Thyroid, 2017, 27(11): 1341-1346.
31. Nikiforov YE, Ohori NP, Hodak SP, et al. Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples. J Clin Endocrinol Metab, 2011, 96(11): 3390-3397.
32. Paek SH, Kim BS, Kang KH, et al. False-negative BRAF V600E mutation results on fine-needle aspiration cytology of papillary thyroid carcinoma. World J Surg Oncol, 2017, 15(1): 202.
33. de Koster EJ, de Geus-Oei LF, Dekkers OM, et al. Diagnostic utility of molecular and imaging biomarkers in cytological indeterminate thyroid nodules. Endocr Rev, 2018, 39(2): 154-191.
34. Park JY, Kim WY, Hwang TS, et al. BRAF and RAS mutations in follicular variants of papillary thyroid carcinoma. Endocr Pathol, 2013, 24(2): 69-76.
35. An JH, Song KH, Kim SK, et al. RAS mutations in indeterminate thyroid nodules are predictive of the follicular variant of papillary thyroid carcinoma. Clin Endocrinol (Oxf), 2015, 82(5): 760-766.
36. Nikiforov YE. Role of molecular markers in thyroid nodule management: then and now. Endocr Pract, 2017, 23(8): 979-988.
37. Brown AE, Lim KS, Corpus G, et al. Detection of BRAF mutation in the cytocentrifugation supernatant fluid from fine-needle aspiration of thyroid lesions may enhance the diagnostic yield. Cytojournal, 2017, 14: 4.

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Research advance on value of BRAF gene mutation assisted diagnosis of thyroid papillary carcinoma in thyroid nodule

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