1. Horn S, Figl A, Rachakonda PS, Fischer C, Sucker A, Gast A, et al. 2013; TERT promoter mutations in familial and sporadic melanoma. Science. 339(6122):959–61. DOI:
10.1126/science.1230062. PMID:
23348503.
2. Huang FW, Hodis E, Xu MJ, Kryukov GV, Chin L, Garraway LA. 2013; Highly recurrent TERT promoter mutations in human melanoma. Science. 339(6122):957–9. DOI:
10.1126/science.1229259. PMID:
23348506. PMCID:
PMC4423787.
3. Vinagre J, Pinto V, Celestino R, Reis M, Populo H, Boaventura P, et al. 2014; Telomerase promoter mutations in cancer: an emerging molecular biomarker? Virchows Arch. 465(2):119–33. DOI:
10.1007/s00428-014-1608-4. PMID:
25048572.
4. Vinagre J, Almeida A, Pópulo H, Batista R, Lyra J, Pinto V, et al. 2013; Frequency of TERT promoter mutations in human cancers. Nat Commun. 4:2185. DOI:
10.1038/ncomms3185. PMID:
23887589.
6. Kim TH, Kim YE, Ahn S, Kim JY, Ki CS, Oh YL, et al. 2016; TERT promoter mutations and long-term survival in patients with thyroid cancer. Endocr Relat Cancer. 23(10):813–23. DOI:
10.1530/ERC-16-0219. PMID:
27528624.
7. Yang H, Park H, Ryu HJ, Heo J, Kim JS, Oh YL, et al. 2022; Frequency of TERT promoter mutations in real-world analysis of 2,092 thyroid carcinoma patients. Endocrinol Metab (Seoul). 37(4):652–63. DOI:
10.3803/EnM.2022.1477. PMID:
35864728. PMCID:
PMC9449103.
8. Melo M, da Rocha AG, Vinagre J, Batista R, Peixoto J, Tavares C, et al. 2014; TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas. J Clin Endocrinol Metab. 99(5):E754–65. DOI:
10.1210/jc.2013-3734. PMID:
24476079. PMCID:
PMC4191548.
9. Xing M, Liu R, Liu X, Murugan AK, Zhu G, Zeiger MA, et al. 2014; BRAF V600E and TERT promoter mutations cooperatively identify the most aggressive papillary thyroid cancer with highest recurrence. J Clin Oncol. 32(25):2718–26. DOI:
10.1200/JCO.2014.55.5094. PMID:
25024077. PMCID:
PMC4145183.
10. Gandolfi G, Ragazzi M, Frasoldati A, Piana S, Ciarrocchi A, Sancisi V. 2015; TERT promoter mutations are associated with distant metastases in papillary thyroid carcinoma. Eur J Endocrinol. 172(4):403–13. DOI:
10.1530/EJE-14-0837. PMID:
25583906.
11. George JR, Henderson YC, Williams MD, Roberts DB, Hei H, Lai SY, et al. 2015; Association of TERT promoter mutation, but not BRAF mutation, with increased mortality in PTC. J Clin Endocrinol Metab. 100(12):E1550–9. DOI:
10.1210/jc.2015-2690. PMID:
26461266. PMCID:
PMC4667158.
12. Bullock M, Ren Y, O'Neill C, Gill A, Aniss A, Sywak M, et al. 2016; TERT promoter mutations are a major indicator of recurrence and death due to papillary thyroid carcinomas. Clin Endocrinol (Oxf). 85(2):283–90. DOI:
10.1111/cen.12999. PMID:
26667986. PMCID:
PMC5683578.
13. Kim TH, Ki CS, Kim HS, Kim K, Choe JH, Kim JH, et al. 2017; Refining dynamic risk stratification and prognostic groups for differentiated thyroid cancer with TERT promoter mutations. J Clin Endocrinol Metab. 102(5):1757–64. DOI:
10.1210/jc.2016-3434. PMID:
28323925.
14. Liu R, Bishop J, Zhu G, Zhang T, Ladenson PW, Xing M. 2017; Mortality risk stratification by combining BRAF V600E and TERT promoter mutations in papillary thyroid cancer: genetic duet of BRAF and TERT promoter mutations in thyroid cancer mortality. JAMA Oncol. 3(2):202–8. DOI:
10.1001/jamaoncol.2016.3288. PMID:
27581851.
15. Oishi N, Kondo T, Ebina A, Sato Y, Akaishi J, Hino R, et al. 2017; Molecular alterations of coexisting thyroid papillary carcinoma and anaplastic carcinoma: identification of TERT mutation as an independent risk factor for transformation. Mod Pathol. 30(11):1527–37. DOI:
10.1038/modpathol.2017.75. PMID:
28731042.
16. Chintakuntlawar AV, Foote RL, Kasperbauer JL, Bible KC. 2019; Diagnosis and management of anaplastic thyroid cancer. Endocrinol Metab Clin North Am. 48(1):269–84. DOI:
10.1016/j.ecl.2018.10.010. PMID:
30717908.
17. Lin B, Ma H, Ma M, Zhang Z, Sun Z, Hsieh IY, et al. 2019; The incidence and survival analysis for anaplastic thyroid cancer: a SEER database analysis. Am J Transl Res. 11(9):5888–96.
18. Iyer PC, Dadu R, Gule-Monroe M, Busaidy NL, Ferrarotto R, Habra MA, et al. 2018; Salvage pembrolizumab added to kinase inhibitor therapy for the treatment of anaplastic thyroid carcinoma. J Immunother Cancer. 6(1):68. DOI:
10.1186/s40425-018-0378-y. PMID:
29996921. PMCID:
PMC6042271.
19. Keam B, Kreitman RJ, Wainberg ZA, Cabanillas ME, Cho DC, Italiano A, et al. 2018; Updated efficacy and safety data of dabrafenib (D) and trametinib (T) in patients (pts) with BRAF V600E-mutated anaplastic thyroid cancer (ATC). Ann Oncol. 29(Suppl 8):viii645–8. DOI:
10.1093/annonc/mdy302.002.
20. Subbiah V, Kreitman RJ, Wainberg ZA, Cho JY, Schellens JHM, Soria JC, et al. 2018; Dabrafenib and trametinib treatment in patients with locally advanced or metastatic BRAF V600-mutant anaplastic thyroid cancer. J Clin Oncol. 36(1):7–13. DOI:
10.1200/JCO.2017.73.6785. PMID:
29072975. PMCID:
PMC5791845.
21. Capdevila J, Wirth LJ, Ernst T, Ponce Aix S, Lin CC, Ramlau R, et al. 2020; PD-1 blockade in anaplastic thyroid carcinoma. J Clin Oncol. 38(23):2620–7. DOI:
10.1200/JCO.19.02727. PMID:
32364844. PMCID:
PMC7476256.
22. Dierks C, Seufert J, Aumann K, Ruf J, Klein C, Kiefer S, et al. 2021; Combination of lenvatinib and pembrolizumab is an effective treatment option for anaplastic and poorly differentiated thyroid carcinoma. Thyroid. 31(7):1076–85. DOI:
10.1089/thy.2020.0322. PMID:
33509020. PMCID:
PMC8290324.
23. Leboulleux S, Godbert Y, Penel N, Hescot S, De la Fouchardiere C, Blonski M, et al. 2021; Benefits of pembrolizumab in progressive radioactive iodine refractory thyroid cancer: results of the AcSé pembrolizumab study from unicancer. J Clin Oncol. 39(15_suppl):6082. DOI:
10.1200/JCO.2021.39.15_suppl.6082.
24. Park J, Jung HA, Shim JH, Park WY, Kim TH, Lee SH, et al. 2021; Multimodal treatments and outcomes for anaplastic thyroid cancer before and after tyrosine kinase inhibitor therapy: a real-world experience. Eur J Endocrinol. 184(6):837–45. DOI:
10.1530/EJE-20-1482. PMID:
33852431.
25. Subbiah V, Kreitman RJ, Wainberg ZA, Cho JY, Schellens JHM, Soria JC, et al. 2022; Dabrafenib plus trametinib in patients with BRAF V600E-mutant anaplastic thyroid cancer: updated analysis from the phase II ROAR basket study. Ann Oncol. 33(4):406–15. DOI:
10.1016/j.annonc.2021.12.014. PMID:
35026411. PMCID:
PMC9338780.
26. Bible KC, Kebebew E, Brierley J, Brito JP, Cabanillas ME, Clark TJ Jr, et al. 2021; 2021 American Thyroid Association guidelines for management of patients with anaplastic thyroid cancer. Thyroid. 31(3):337–86. DOI:
10.1089/thy.2020.0944. PMID:
33728999. PMCID:
PMC8349723.
27. Landa I, Ibrahimpasic T, Boucai L, Sinha R, Knauf JA, Shah RH, et al. 2016; Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest. 126(3):1052–66. DOI:
10.1172/JCI85271. PMID:
26878173. PMCID:
PMC4767360.
28. Molinaro E, Romei C, Biagini A, Sabini E, Agate L, Mazzeo S, et al. 2017; Anaplastic thyroid carcinoma: from clinicopathology to genetics and advanced therapies. Nat Rev Endocrinol. 13(11):644–60. DOI:
10.1038/nrendo.2017.76. PMID:
28707679.
29. Eisenhauer EA, Therasse P, Bogaerts J, Schwartz LH, Sargent D, Ford R, et al. 2009; New response evaluation criteria in solid tumours: revised RECIST guideline (version 1.1). Eur J Cancer. 45(2):228–47. DOI:
10.1016/j.ejca.2008.10.026. PMID:
19097774.
30. Liu T, Wang N, Cao J, Sofiadis A, Dinets A, Zedenius J, et al. 2014; The age- and shorter telomere-dependent TERT promoter mutation in follicular thyroid cell-derived carcinomas. Oncogene. 33(42):4978–84. DOI:
10.1038/onc.2013.446. PMID:
24141777.
31. Shi X, Liu R, Qu S, Zhu G, Bishop J, Liu X, et al. 2015; Association of TERT promoter mutation 1,295,228 C>T with BRAF V600E mutation, older patient age, and distant metastasis in anaplastic thyroid cancer. J Clin Endocrinol Metab. 100(4):E632–7. DOI:
10.1210/jc.2014-3606. PMID:
25584719. PMCID:
PMC4399285.
32. Xu B, Zhang L, Setoodeh R, Mohanty AS, Landa I, Balzer B, et al. 2022; Prolonged survival of anaplastic thyroid carcinoma is associated with resectability, low tumor-infiltrating neutrophils/myeloid-derived suppressor cells, and low peripheral neutrophil- to-lymphocyte ratio. Endocrine. 76(3):612–9. DOI:
10.1007/s12020-022-03008-9. PMID:
35149932. PMCID:
PMC10173871.
33. Chung JH. 2020; BRAF and TERT promoter mutations: clinical application in thyroid cancer. Endocr J. 67(6):577–84. DOI:
10.1507/endocrj.EJ20-0063. PMID:
32321884.
34. Gu H, Wang J, Ran W, Li G, Hu S, Zhao H, et al. 2024; Anaplastic and poorly differentiated thyroid carcinomas: genetic evidence of high-grade transformation from differentiated thyroid carcinoma. J Pathol Clin Res. 10(2):e356. DOI:
10.1002/cjp2.356. PMID:
38602501. PMCID:
PMC10796291.