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Abstract
Thyroid neoplasms are the most common endocrine system among tumors. Over the last decades, the number of new cases has increased significantly and continues to show an upward trend. At the basis of the neoplastic disease are changes occurring in cells at the molecular level, mainly somatic mutations in certain oncogenes or suppressor genes. Molecular profile analysis in the field of somatic mutations in the genes associated with thyroid cancer allows to broaden knowledge about the molecular basis of cancer and to understand the role of their genetic basis in the development of the disease, its progression and prognosis of successful therapy. Mutations in genes from the RAS family (NRAS, KRAS, HRAS) are most often associated with the follicular type of thyroid cancer, but are also detected in the case of the anaplastic type. However, mutations in the BRAF gene are associated with papillary type, but may also occur in the anaplastic type. Mutations in the promoter region of the TERT gene are associated with higher tumor aggressiveness, metastases and worse prognosis for the patients.
References
Agrawal, N., et al., Integrated Genomic Characterization of Papillary Thyroid Carcinoma. Cell, 2014. 159(3): p. 676-690.
Lai, X., et al., A meta-analysis of Hashimoto's thyroiditis and papillary thyroid carcinoma risk. Oncotarget, 2017. 8(37): p. 62414-62424.
Resende de Paiva, C., et al., Association between Hashimoto's Thyroiditis and Thyroid Cancer in 64,628 Patients. Frontiers in oncology, 2017. 7: p. 53-53.
Acquaviva, G., et al., Molecular pathology of thyroid tumours of follicular cells: a review of genetic alterations and their clinicopathological relevance. Histopathology, 2018. 72(1): p. 6-31.
Rusinek, D., et al., Coexistence of TERT Promoter Mutations and the BRAF V600E Alteration and Its Impact on Histopathological Features of Papillary Thyroid Carcinoma in a Selected Series of Polish Patients. Int J Mol Sci, 2018. 19(9).
Molinaro, E., et al., Anaplastic thyroid carcinoma: from clinicopathology to genetics and advanced therapies. Nature Reviews Endocrinology, 2017. 13: p. 644.
Tuttle, R.M., B. Haugen, and N.D. Perrier, Updated American Joint Committee on Cancer/Tumor-Node-Metastasis Staging System for Differentiated and Anaplastic Thyroid Cancer (Eighth Edition): What Changed and Why? Thyroid : official journal of the American Thyroid Association, 2017. 27(6): p. 751-756.
Rusinek, D., et al., Current Advances in Thyroid Cancer Management. Are We Ready for the Epidemic Rise of Diagnoses? Int J Mol Sci, 2017. 18(8).
Glaser, S.M., et al., Anaplastic thyroid cancer: Prognostic factors, patterns of care, and overall survival. Head Neck, 2016. 38 Suppl 1: p. E2083-90.
Swierniak, M., et al., Somatic mutation profiling of follicular thyroid cancer by next generation sequencing. Molecular and Cellular Endocrinology, 2016. 433: p. 130-137.
Kunstman, J.W., et al., Characterization of the mutational landscape of anaplastic thyroid cancer via whole-exome sequencing. Hum Mol Genet, 2015. 24(8): p. 2318-29.
Landa, I., et al., Genomic and transcriptomic hallmarks of poorly differentiated and anaplastic thyroid cancers. J Clin Invest, 2016. 126(3): p. 1052-66.
Bonhomme, B., et al., Molecular Pathology of Anaplastic Thyroid Carcinomas: A Retrospective Study of 144 Cases. Thyroid, 2017. 27(5): p. 682-692.
Tiedje, V., et al., NGS based identification of mutational hotspots for targeted therapy in anaplastic thyroid carcinoma. Oncotarget, 2017. 8(26): p. 42613-42620.
Fakhruddin, N., et al., BRAF and NRAS Mutations in Papillary Thyroid Carcinoma and Concordance in BRAF Mutations Between Primary and Corresponding Lymph Node Metastases. Scientific Reports, 2017. 7(1): p. 4666.
Xing, M., Clinical utility of RAS mutations in thyroid cancer: a blurred picture now emerging clearer. BMC Med, 2016. 14: p. 12.
Czarniecka, A., M. Oczko-Wojciechowska, and M. Barczyński, BRAF V600E mutation in prognostication of papillary thyroid cancer (PTC) recurrence. Gland surgery, 2016. 5(5): p. 495-505.
Liu, R. and M. Xing, TERT promoter mutations in thyroid cancer. Endocr Relat Cancer, 2016. 23(3): p. R143-55.
Manzella, L., et al., New Insights in Thyroid Cancer and p53 Family Proteins. International journal of molecular sciences, 2017. 18(6): p. 1325.
Xing, M., Genetic alterations in the phosphatidylinositol-3 kinase/Akt pathway in thyroid cancer. Thyroid : official journal of the American Thyroid Association, 2010. 20(7): p. 697-706.
Xu, B. and R. Ghossein, Genomic Landscape of poorly Differentiated and Anaplastic Thyroid Carcinoma. Endocr Pathol, 2016. 27(3): p. 205-12.
Arighi, E., M.G. Borrello, and H. Sariola, RET tyrosine kinase signaling in development and cancer. Cytokine Growth Factor Rev, 2005. 16(4-5): p. 441-67.
Khan, M.S., et al., RET/PTC Gene Rearrangements in Thyroid Carcinogenesis: Assessment and Clinico-Pathological Correlations. Pathol Oncol Res, 2018.
Armstrong, M.J., et al., PAX8/PPARγ rearrangement in thyroid nodules predicts follicular-pattern carcinomas, in particular the encapsulated follicular variant of papillary carcinoma. Thyroid : official journal of the American Thyroid Association, 2014. 24(9): p. 1369-1374.