Clinical value of BRAF V600E in thyroid carcinoma and the effect of telomerase reverse transcriptase promoter mutations_Journal of Biomedical Engineering

Authors：

ZHAO Chunyan ,  JIA Zhiyun

Department of Nuclear Medicine, West China Hospital of Sichuan University, Chengdu 610041, P.R.China;

Corresponding?author：

Keywords：

thyroid carcinoma; v-raf murine sarcoma viral oncogene homologue B1; telomerase reverse transcriptase

DOI：

10.7507/1001-5515.201804002

Video：

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In recent years, the incidence of thyroid cancer has been increasing. Researchers around the world have begun to pay more attention to the exploration of its pathogenesis, disease evolution and prognosis. Among them, research in the field of gene molecules has become a hotspot, which includes the mutations of v-raf murine sarcoma viral oncogene homologue B1 (BRAF) and the telomerase reverse transcriptase (TERT) promoter. However, this field is not mature, and there are many problems and challenges need to be solved. This paper explores the value of BRAF mutation in the treatment, recurrence, mortality and prognosis of papillary thyroid carcinoma. In addition, we also explore the relationship between BRAF mutation and TERT promoter mutations and their influences in thyroid cancer. We hope this paper could help later scholars understand the current situation in this field and find a research direction in the future.

Citation： ZHAO Chunyan, JIA Zhiyun. Clinical value of BRAF V600E in thyroid carcinoma and the effect of telomerase reverse transcriptase promoter mutations. Journal of Biomedical Engineering, 2019, 36(2): 338-342. doi: 10.7507/1001-5515.201804002 Copy

1.	Siegel R L, Miller K D, Jemal A. Cancer statistics, 2017. CA Cancer J Clin, 2017, 67(1): 7-30.
2.	La Vecchia C, Malvezzi M, Bosetti C, et al. Thyroid cancer mortality and incidence: a global overview. Int J Cancer, 2015, 136(9): 2187-2195.
3.	Miller K D, Siegel R L, Lin C C, et al. Cancer treatment and survivorship statistics, 2016. CA Cancer J Clin, 2016, 66(4): 271-289.
4.	Rahib L, Smith B D, Aizenberg R, et al. Projecting cancer incidence and deaths to 2030: the unexpected burden of thyroid, liver, and pancreas cancers in the United States. Cancer Res, 2014, 74(11): 2913-2921.
5.	Smittenaar C R, Petersen K A, Stewart K, et al. Cancer incidence and mortality projections in the UK until 2035. Br J Cancer, 2016, 115(9): 1147-1155.
6.	Jung Y Y, Yoo J H, Park E S, et al. Clinicopathologic correlations of the BRAF V600E mutation, BRAF V600E immunohistochemistry, and BRAF RNA in situ hybridization in papillary thyroid carcinoma. Pathol Res Pract, 2015, 211(2): 162-170.
7.	Yuan P, Cao J L, Abuduwufuer A, et al. Clinical characteristics and prognostic significance of TERT promoter mutations in cancer: a cohort study and a meta-analysis. PLoS One, 2016, 11(1): e0146803.
8.	Hoang J K, Choudhury K R, Eastwood J D, et al. An exponential growth in incidence of thyroid cancer: trends and impact of CT imaging. AJNR Am J Neuroradiol, 2014, 35(4): 778-783.
9.	Brito J P, Kim H J, Han S J, et al. Geographic distribution and evolution of thyroid cancer epidemic in South Korea. Thyroid, 2016, 26(6): 864-865.
10.	宮舒萍, 林少倩, 王瑩, 等. 2012-2016 年濟南市城市居民惡性腫瘤發病分析. 現代預防醫學, 2018, 45(2): 270-272, 307.
11.	黃聲稀, 金偉奎, 司芩. 超聲造影聯合彈性成像診斷甲狀腺癌的價值分析. 臨床腫瘤學雜志, 2017, 22(9): 823-826.
12.	Davies L, Morris L G, Haymart M, et al. American association of clinical endocrinologists and American college of endocrinology disease state clinical review: the increasing incidence of thyroid cancer. Endocr Pract, 2015, 21(6): 686-696.
13.	Xu L, Port M, Landi S, et al. Obesity and the risk of papillary thyroid cancer: a pooled analysis of three case-control studies. Thyroid, 2014, 24(6): 966-974.
14.	Sak S D. Variants of papillary thyroid carcinoma: multiple faces of a familiar tumor. Turk Patoloji Derg, 2015, 31(Suppl 1): 34-47.
15.	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.
16.	Du L, Wang Y, Sun X, et al. Thyroid cancer: trends in incidence, mortality and clinical-pathological patterns in Zhejiang province, southeast China. BMC Cancer, 2018, 18(1): 291.
17.	Vannucchi G, de Leo S, Perrino M, et al. Impact of estrogen and progesterone receptor expression on the clinical and molecular features of papillary thyroid cancer. Eur J Endocrinol, 2015, 173(1): 29-36.
18.	Wang Y, Guo Q, Zhao Y, et al. BRAF-activated long non-coding RNA contributes to cell proliferation and activates autophagy in papillary thyroid carcinoma. Oncol Lett, 2014, 8(5): 1947-1952.
19.	Xing M. Prognostic utility of BRAF mutation in papillary thyroid cancer. Mol Cell Endocrinol, 2010, 321(1): 86-93.
20.	Zhao H, Zhang Z H, Zhou B, et al. Detection of BRAF c.1799T>A (p.V600E) mutation using residual routine fine-needle aspiration specimens of papillary thyroid carcinoma. Diagn Cytopathol, 2015, 43(10): 786-790.
21.	Dyhdalo K, Macnamara S, Brainard J, et al. Assessment of cellularity, genomic DNA yields, and technical platforms for BRAF mutational testing in thyroid fine-needle aspirate samples. Cancer Cytopathol, 2014, 122(2): 114-122.
22.	何俊峰, 閆國珍, 劉揚, 等. 甲狀腺微小癌超聲引導下細針穿刺細胞學與粗針穿刺組織學檢查的臨床對比研究. 中國超聲醫學雜志, 2018, (3): 211-213.
23.	Sun J, Zhang J, Lu J, et al. Immunohistochemistry is highly sensitive and specific for detecting the BRAF V600E mutation in papillary thyroid carcinoma. Int J Clin Exp Pathol, 2015, 8(11): 15072-15078.
24.	Carrasco N. Iodide transport in the thyroid gland. Biochim Biophys Acta, 1993, 1154(1): 65-82.
25.	Xing M, Alzahrani A S, Carson K A, et al. Association between BRAF V600E mutation and recurrence of papillary thyroid cancer. J Clin Oncol, 2015, 33(1): 42-50.
26.	Millington G W, Mutations of the BRAF gene in human cancer, by Davies et al. (Nature 2002; 417: 949-54). Clin Exp Dermatol, 2013, 38(2): 222-223.
27.	Perri F, Pezzullo L, Chiofalo M G, et al. Targeted therapy: a new hope for thyroid carcinomas. Crit Rev Oncol Hematol, 2015, 94(1): 55-63.
28.	Rothenberg S M, Mcfadden D G, Palmer E L, et al. Redifferentiation of iodine-refractory BRAF V600E-mutant metastatic papillary thyroid cancer with dabrafenib. Clin Cancer Res, 2015, 21(5): 1028-1035.
29.	Liu X, Yan K, Lin X, et al. The association between BRAF(V600E) mutation and pathological features in PTC. Eur Arch Otorhinolaryngol, 2014, 271(11): 3041-3052.
30.	Vuong H G, Duong U N, Altibi A M, et al. A meta-analysis of prognostic roles of molecular markers in papillary thyroid carcinoma. Endocr Connect, 2017, 6(3): R8-r17.
31.	Lee J I, Jang H W, Kim S W, et al. BRAF(V600E) mutation in fine-needle aspiration aspirates: association with poorer prognostic factors in larger papillary thyroid carcinomas. Head Neck, 2013, 35(4): 548-553.
32.	Czarniecka A, Kowal M, Rusinek D, et al. The risk of relapse in papillary thyroid cancer (PTC) in the context of BRAF(V600E) mutation status and other prognostic factors. PLoS One, 2015, 10(7): e0132821.
33.	Kim B H, Kim I J, Lee B J, et al. Detection of plasma BRAF(V600E) mutation is associated with lung metastasis in papillary thyroid carcinomas. Yonsei Med J, 2015, 56(3): 634-640.
34.	Lu J, Gao J, Zhang J, et al. Association between BRAF V600E mutation and regional lymph node metastasis in papillary thyroid carcinoma. Int J Clin Exp Pathol, 2015, 8(1): 793-799.
35.	Yang Libo, Sun Linyong, Jiang Yong, et al. The clinicopathological features of BRAF mutated papillary thyroid cancers in chinese patients. Int J Endocrinol, 2015, 2015: 642046.
36.	Heidenreich B, Rachakonda P S, Hemminki K, et al. TERT promoter mutations in cancer development. Curr Opin Genet Dev, 2014, 24: 30-37.
37.	Liu R, Xing M. TERT promoter mutations in thyroid cancer. Endocr Relat Cancer, 2016, 23(3): R143-R155.
38.	Alzahrani A S, Alsaadi R, Murugan A K, et al. TERT promoter mutations in thyroid cancer. Horm Cancer, 2016, 7(3): 165-177.
39.	Xing M, Liu R, Liu X, et al. BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence. J Clin Oncol, 2014, 32(25): 2718-2726.

1. Siegel R L, Miller K D, Jemal A. Cancer statistics, 2017. CA Cancer J Clin, 2017, 67(1): 7-30.
2. La Vecchia C, Malvezzi M, Bosetti C, et al. Thyroid cancer mortality and incidence: a global overview. Int J Cancer, 2015, 136(9): 2187-2195.
3. Miller K D, Siegel R L, Lin C C, et al. Cancer treatment and survivorship statistics, 2016. CA Cancer J Clin, 2016, 66(4): 271-289.
4. Rahib L, Smith B D, Aizenberg R, et al. Projecting cancer incidence and deaths to 2030: the unexpected burden of thyroid, liver, and pancreas cancers in the United States. Cancer Res, 2014, 74(11): 2913-2921.
5. Smittenaar C R, Petersen K A, Stewart K, et al. Cancer incidence and mortality projections in the UK until 2035. Br J Cancer, 2016, 115(9): 1147-1155.
6. Jung Y Y, Yoo J H, Park E S, et al. Clinicopathologic correlations of the BRAF V600E mutation, BRAF V600E immunohistochemistry, and BRAF RNA in situ hybridization in papillary thyroid carcinoma. Pathol Res Pract, 2015, 211(2): 162-170.
7. Yuan P, Cao J L, Abuduwufuer A, et al. Clinical characteristics and prognostic significance of TERT promoter mutations in cancer: a cohort study and a meta-analysis. PLoS One, 2016, 11(1): e0146803.
8. Hoang J K, Choudhury K R, Eastwood J D, et al. An exponential growth in incidence of thyroid cancer: trends and impact of CT imaging. AJNR Am J Neuroradiol, 2014, 35(4): 778-783.
9. Brito J P, Kim H J, Han S J, et al. Geographic distribution and evolution of thyroid cancer epidemic in South Korea. Thyroid, 2016, 26(6): 864-865.
10. 宮舒萍, 林少倩, 王瑩, 等. 2012-2016 年濟南市城市居民惡性腫瘤發病分析. 現代預防醫學, 2018, 45(2): 270-272, 307.
11. 黃聲稀, 金偉奎, 司芩. 超聲造影聯合彈性成像診斷甲狀腺癌的價值分析. 臨床腫瘤學雜志, 2017, 22(9): 823-826.
12. Davies L, Morris L G, Haymart M, et al. American association of clinical endocrinologists and American college of endocrinology disease state clinical review: the increasing incidence of thyroid cancer. Endocr Pract, 2015, 21(6): 686-696.
13. Xu L, Port M, Landi S, et al. Obesity and the risk of papillary thyroid cancer: a pooled analysis of three case-control studies. Thyroid, 2014, 24(6): 966-974.
14. Sak S D. Variants of papillary thyroid carcinoma: multiple faces of a familiar tumor. Turk Patoloji Derg, 2015, 31(Suppl 1): 34-47.
15. 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.
16. Du L, Wang Y, Sun X, et al. Thyroid cancer: trends in incidence, mortality and clinical-pathological patterns in Zhejiang province, southeast China. BMC Cancer, 2018, 18(1): 291.
17. Vannucchi G, de Leo S, Perrino M, et al. Impact of estrogen and progesterone receptor expression on the clinical and molecular features of papillary thyroid cancer. Eur J Endocrinol, 2015, 173(1): 29-36.
18. Wang Y, Guo Q, Zhao Y, et al. BRAF-activated long non-coding RNA contributes to cell proliferation and activates autophagy in papillary thyroid carcinoma. Oncol Lett, 2014, 8(5): 1947-1952.
19. Xing M. Prognostic utility of BRAF mutation in papillary thyroid cancer. Mol Cell Endocrinol, 2010, 321(1): 86-93.
20. Zhao H, Zhang Z H, Zhou B, et al. Detection of BRAF c.1799T>A (p.V600E) mutation using residual routine fine-needle aspiration specimens of papillary thyroid carcinoma. Diagn Cytopathol, 2015, 43(10): 786-790.
21. Dyhdalo K, Macnamara S, Brainard J, et al. Assessment of cellularity, genomic DNA yields, and technical platforms for BRAF mutational testing in thyroid fine-needle aspirate samples. Cancer Cytopathol, 2014, 122(2): 114-122.
22. 何俊峰, 閆國珍, 劉揚, 等. 甲狀腺微小癌超聲引導下細針穿刺細胞學與粗針穿刺組織學檢查的臨床對比研究. 中國超聲醫學雜志, 2018, (3): 211-213.
23. Sun J, Zhang J, Lu J, et al. Immunohistochemistry is highly sensitive and specific for detecting the BRAF V600E mutation in papillary thyroid carcinoma. Int J Clin Exp Pathol, 2015, 8(11): 15072-15078.
24. Carrasco N. Iodide transport in the thyroid gland. Biochim Biophys Acta, 1993, 1154(1): 65-82.
25. Xing M, Alzahrani A S, Carson K A, et al. Association between BRAF V600E mutation and recurrence of papillary thyroid cancer. J Clin Oncol, 2015, 33(1): 42-50.
26. Millington G W, Mutations of the BRAF gene in human cancer, by Davies et al. (Nature 2002; 417: 949-54). Clin Exp Dermatol, 2013, 38(2): 222-223.
27. Perri F, Pezzullo L, Chiofalo M G, et al. Targeted therapy: a new hope for thyroid carcinomas. Crit Rev Oncol Hematol, 2015, 94(1): 55-63.
28. Rothenberg S M, Mcfadden D G, Palmer E L, et al. Redifferentiation of iodine-refractory BRAF V600E-mutant metastatic papillary thyroid cancer with dabrafenib. Clin Cancer Res, 2015, 21(5): 1028-1035.
29. Liu X, Yan K, Lin X, et al. The association between BRAF(V600E) mutation and pathological features in PTC. Eur Arch Otorhinolaryngol, 2014, 271(11): 3041-3052.
30. Vuong H G, Duong U N, Altibi A M, et al. A meta-analysis of prognostic roles of molecular markers in papillary thyroid carcinoma. Endocr Connect, 2017, 6(3): R8-r17.
31. Lee J I, Jang H W, Kim S W, et al. BRAF(V600E) mutation in fine-needle aspiration aspirates: association with poorer prognostic factors in larger papillary thyroid carcinomas. Head Neck, 2013, 35(4): 548-553.
32. Czarniecka A, Kowal M, Rusinek D, et al. The risk of relapse in papillary thyroid cancer (PTC) in the context of BRAF(V600E) mutation status and other prognostic factors. PLoS One, 2015, 10(7): e0132821.
33. Kim B H, Kim I J, Lee B J, et al. Detection of plasma BRAF(V600E) mutation is associated with lung metastasis in papillary thyroid carcinomas. Yonsei Med J, 2015, 56(3): 634-640.
34. Lu J, Gao J, Zhang J, et al. Association between BRAF V600E mutation and regional lymph node metastasis in papillary thyroid carcinoma. Int J Clin Exp Pathol, 2015, 8(1): 793-799.
35. Yang Libo, Sun Linyong, Jiang Yong, et al. The clinicopathological features of BRAF mutated papillary thyroid cancers in chinese patients. Int J Endocrinol, 2015, 2015: 642046.
36. Heidenreich B, Rachakonda P S, Hemminki K, et al. TERT promoter mutations in cancer development. Curr Opin Genet Dev, 2014, 24: 30-37.
37. Liu R, Xing M. TERT promoter mutations in thyroid cancer. Endocr Relat Cancer, 2016, 23(3): R143-R155.
38. Alzahrani A S, Alsaadi R, Murugan A K, et al. TERT promoter mutations in thyroid cancer. Horm Cancer, 2016, 7(3): 165-177.
39. Xing M, Liu R, Liu X, et al. BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence. J Clin Oncol, 2014, 32(25): 2718-2726.

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