Relation between genetic variations and diagnosis, treatment, or prognosis of papillary thyroid cancer: a literature review_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

YUAN Shuanglong , XUE Jiang ,  NIU Xiaoye

Department of Thyroid and Breast Surgery, Bayannur Hospital, Bayannur, Inner Mongolia Autonomous Region 015000, P. R. China;

Corresponding author：

NIU Xiaoye, Email: 117695468@qq.com

Keywords：

papillary thyroid cancer; genetic variation; diagnosis; treatment; prognosis

DOI：

10.7507/1007-9424.202404073

Video：

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Objective To understand the significance of common gene variations in the diagnosis, treatment, and prognosis of papillary thyroid cancer (PTC). Method The literature relevant research on PTC gene variations both domestically and internationally was reviewed. Results The most common genetic variations in the PTC in clinical studies included mutations or rearrangements in BRAF, TERT promoter, RAS, RET, and other genes, which had certain diagnostic value for PTC, but the drugs available for their treatment was relatively limited; Moreover, it had been found that multiple genes co-mutations were also common in the PTC, and the prognosis was often worse. Conclusions By sorting out the genetic variations in PTC, new ideas and methods are provided for the diagnosis, treatment, and prognosis of PTC. By detecting the types of genetic variations, the occurrence, development, and prognosis of PTC can be predicted, and personalized treatment plans can be developed for patients with PTC.

Citation： YUAN Shuanglong, XUE Jiang, NIU Xiaoye. Relation between genetic variations and diagnosis, treatment, or prognosis of papillary thyroid cancer: a literature review. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2024, 31(10): 1272-1280. doi: 10.7507/1007-9424.202404073 Copy

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1. 何林烨, 王艺超, 李志辉. 2022年中国甲状腺癌流行情况分析: 基于《中国肿瘤登记年报》2005–2018年数据. 中国普外基础与临床杂志, 2024, 31(7): 790-795.
2. Sui C, Liang N, Du R, et al. Time trend analysis of thyroid cancer surgery in China: single institutional database analysis of 15 000 patients. Endocrine, 2020, 68(3): 617-628.
3. Wang F, Zhao S, Shen X, et al. BRAF^V600E confers male sex disease-specific mortality risk in patients with papillary thyroid cancer. J Clin Oncol, 2018, 36: 2787-2795.
4. Xie Z, Lun Y, Li X, et al. Bioinformatics analysis of the clinical value and potential mechanisms of AHNAK2 in papillary thyroid carcinoma. Aging (Albany NY), 2020, 12: 18163-18180.
5. Boucai L, Zafereo M, Cabanillas ME. Thyroid cancer: A review. JAMA, 2024, 331(5): 425-435.
6. Mondragón-Terán P, López-Hernández LB, Gutiérrez-Salinas J, et al. Intracellular signaling mechanisms in thyroid cancer. Cir Cir, 2016, 84(5): 434-443.
7. Mi L, Liang N, Sun H. A comprehensive analysis of KRT19 combined with immune infiltration to predict breast cancer prognosis. Genes (Basel), 2022, 13(10): 1838. doi: 10.3390/genes13101838.
8. Xing M. Genetic alterations in the phosphatidylinositol-3 kinase/Akt pathway in thyroid cancer. Thyroid, 2010, 20(7): 697-706.
9. Cancer Genome Atlas Research Network. Integrated genomic characterization of papillary thyroid carcinoma. Cell, 2014, 159(3): 676-690.
10. 宁艳丽, 黄中柯, 杜凡, 等. 77基因联合检测评价甲状腺乳头状癌基因变异. 实用肿瘤杂志, 2024, 39(1): 63-68.
11. Toda S, Iwasaki H, Okubo Y, et al. The frequency of mutations in advanced thyroid cancer in Japan: a single-center study. Endocr J, 2024, 71(1): 31-37.
12. Wang Y, Wang H, Tan G, et al. Application value of multi-gene mutation detection in the clinical management of pediatric papillary thyroid carcinoma: a preliminary exploration. Front Endocrinol (Lausanne), 2024, 15: 1405142. doi: 10.3389/fendo.2024.1405142.
13. Li M, Jia HT, Qian QQ, et al. Genomic characterization of high-recurrence risk papillary thyroid carcinoma in a southern Chinese population. Diagn Pathol, 2020, 15(1): 49. doi: 10.1186/s13000-020-00962-8.
14. Chung JH. BRAF and TERT promoter mutations: clinical application in thyroid cancer. Endocr J, 2020, 67(6): 577-584.
15. Nicolson NG, Murtha TD, Dong W, et al. Comprehensive genetic analysis of follicular thyroid carcinoma predicts prognosis independent of histology. J Clin Endocrinol Metab, 2018, 103(7): 2640-2650.
16. Smida J, Salassidis K, Hieber L, et al. Distinct frequency of ret rearrangements inpapillary thyroid carcinomas of children and adults from Belarus. Int J Cancer, 1999, 80: 32-38.
17. Paulson VA, Rudzinski ER, Hawkins DS. Thyroid cancer in the pediatric population. Genes (Basel), 2019, 10(9): 723. doi: 10.3390/genes10090723.
18. Li AY, McCusker MG, Russo A, et al. RET fusions in solid tumors. Cancer Treat Rev, 2019, 81: 101911. doi: 10.1016/j.ctrv.2019.101911.
19. Khan MS, Qadri Q, Makhdoomi MJ, et al. RET/PTC gene rearrangements in thyroid carcinogenesis: assessment and clinico-pathological correlations. Pathol Oncol Res, 2020, 26(1): 507-513.
20. Romei C, Ciampi R, Elisei R. A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma. Nat Rev Endocrinol, 2016, 12(4): 192-202.
21. Huang Y, Lin P, Liao J, et al. Next-generation sequencing identified that RET variation associates with lymph node metastasis and the immune microenvironment in thyroid papillary carcinoma. BMC Endocr Disord, 2024, 24(1): 68. doi: 10.1186/s12902-024-01586-5.
22. Karunamurthy A, Panebianco F, Hsiao SJ, et al. Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules. Endocr Relat Cancer, 2016, 23: 295-301.
23. Abi-Raad R, Xu B, Gilani S, et al. EIF1AX mutation in thyroid nodules: a histopathologic analysis of 56 cases in the context of institutional practices. Virchows Arch, 2024 Sep 3. doi: 10.1007/s00428-024-03914-5.
24. Kimura ET, Nikiforova MN, Zhu Z, et al. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res, 2003, 63(7): 1454-1457.
25. Kondo T, Ezzat S, Asa SL. Pathogenetic mechanisms in thyroid follicular-cell neoplasia. Nat Rev Cancer, 2006, 6(4): 292-306.
26. 中华人民共和国国家卫生健康委员会医政医管局. 甲状腺癌诊疗指南(2022年版). 中国实用外科杂志, 2022, 42(12): 1343-1357, 1363.
27. Haugen BR. 2015 American thyroid association management guidelines for adult patients with thyroid nodules and differentiated thyroid cancer: What is new and what has changed? Cancer, 2017, 123: 372-381.
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CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Relation between genetic variations and diagnosis, treatment, or prognosis of papillary thyroid cancer: a literature review

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