Molecular aspects of papillary thyroid carcinoma

Authors

DOI:

https://doi.org/10.33448/rsd-v12i2.39986

Keywords:

Thyroid cancer; Papillary thyroid carcinoma; Gene mutations.

Abstract

Introduction: Thyroid cancer is the most common endocrine neoplasm. The pathogenesis of thyroid cancer considers mutations leading to progression through a process of dedifferentiation generating well-differentiated carcinomas, such as papillary and follicular, and progressing to poorly differentiated, undifferentiated or anaplastic thyroid carcinomas. Objective: To describe the main molecular alterations for the development of PTC. Methodology: This is a narrative review. The databases PUBMED, SCIELO, Science Direct, Google Scholar and the National Cancer Institute were used. As inclusion/exclusion criteria, articles comprised between 2004 and 2022, in Portuguese and English. Results and discussion: PTC molecular alterations arise from the initial mutation in some gene involved in the regulation of proliferation and/or cell differentiation, leading to clonal expansion of the genetically modified cell due to its ability to proliferate and escape cell cycle control through changes in genes such as BRAF, KRAS, NTRK1 and RET. Conclusion: The onset and progression of thyroid cancer comprises multiple genetic changes, including mutations that lead to activation of MAPK and PI3K-AKT signaling pathways. Altered genes that affect this pathway include mutations in genes encoding RAS and BRAF intracellular signal transducers and rearrangements in RET/PTC receptor tyrosine kinase. These data are extremely important for understanding the pathophysiological mechanism of this condition, as well as providing the basis for a more assertive diagnosis and more specific treatment, providing a more favorable prognosis with fewer side effects.

References

Abdullah, M. I., Junit, S. M., Ng, K. L., Jayapalan, J. J., Karikalan, B., & Hashim, O. H. (2019). Papillary thyroid cancer: genetic alterations and molecular biomarker investigations. International Journal of Medical Sciences, 16 (3), 450–460. https://doi.org/10.7150/ijms.29935

Acuña-Ruiz, A., Carrasco-Lopez, J., & Santisteban, P. (2022). Genomic and epigenomic profile of thyroid cancer. Best Practice & Research Clinical Endocrinology & Metabolism.https://doi.org/10.1016/j.beem.2022.101656

Brasileiro-filho, G. (2019). Bogliolo Patologia Geral. (9a ed.). Guanabara Koogan.

Cavalheiro, P. B. (2019). Câncer de tireoide: Avaliação da atividade de enzimas do sistema purinérgico, butirilcolinesterase e perfiloxidativo (Tese de doutorado, Universidade Federal de Santa Maria). Recuperado em https://repositorio.ufsm.br/handle/1/20910

Cunha, L. L. (2015). Impacto da resposta imunológica no prognóstico do paciente com carcinoma diferenciado de tiroide: da bancada à clínica (Tese de doutorado, Universidade Estadual de Campinas). Recuperado em http://repositorio.unicamp.br/acervo/detalhe/945251

Grani, G., Sponziello, M. L., Pecce, V., Ramundo, V., & Durante, C. (2020). Contemporary thyroid nodule evaluation and management. The Journal of Clinical Endocrinology & Metabolism, 105(9), 2869-2883. https://doi.org/10.1210/clinem/dgaa322

Greco, A., Miranda, C., & Pierotti, M. A. (2010). Rearrangements of NTRK1 gene in papillary thyroid carcinoma. Molecular and Cellular Endocrinolog, 321 (1), 44-49. https://doi.org/10.1016/j.mce.2009.10.009

Instituto Nacional De Câncer -INCA. Introdução. <https://www.inca.gov.br/estimativa/introducao>

Italiano, A., Hostein, I., Soubeyran, I., Fabas, T., Benchimol, D., Evrard, S., Gugenheim, J., Becouarn, Y., Brunet, R., Fonck, M., François, E., Saint-Paul, M. C., & Pedeutour, F. (2010). KRAS and BRAF mutational status in primary colorectal tumors and related metastatic sites: Biological and clinical implications. Annals of Surgical Oncology, 17(5), 1429–1434. https://doi.org/10.1245/s10434-009-0864-z

Kumar, V., Abbas, A. K., & Aster, J. C. (2018). Robbins Patologia Básica. (10a ed). Elsevier.

Lin, R., Wang, Z. X., Cottrill, E., Badjatia, N., & Gargano, S. M. (2022). Patient with multiple genetically distinct thyroid nodules including papillary thyroid carcinoma harboring novel YWHAG-BRAF fusion. Cancer Genetics, 266-267, 51–56. 10.1016/j.cancergen.2022.06.006

Matsuo, S. E., Martins, L., Leoni, S. G., Hajjar, D., Ricarte-filho, J. C. M., Ebina, K. N., & Edna, T. K. (2004). Marcadores biológicos de tumores tiroidianos. Arquivos Brasileiro de Endocrinologia e Metabologia, 48 (1), 114-125. https://doi.org/10.1590/S0004-27302004000100013

Minayo, M. C. S. (2013). O desafio do conhecimento: Pesquisa qualitativa em saúde. (14a ed.). Hucitec

Pimentel, C. P. (2018). Investigação de ocorrência de alterações moleculares nos genes KRAS, HRAS e BRAF em carcinoma papilífero de tireoide (Tese de doutorado, Universidade Federal do Pará). Recuperado em http://repositorio.ufpa.br:8080/jspui/handle/2011/9976

Riesco-Elizaguirre, G., & Santisteban, P. (2016). Advances in the molecular pathogenesis of thyroid cancer: lessons from the cancer genome. European Journal of Endocrinology, 175(5), 203-217. https://doi.org/10.1530/EJE-16-0202

Shafique, K., & Baloch, Z. (2019). Risk stratification of papillary thyroid carcinoma and its variants; from clinicopathologic features to molecular profiling. Mini-Symposium: Endocrine Pathology, 25(5), 143-153. https://doi.org/10.1016/j.mpdhp.2019.02.00

Siraj, A. K., Masoodi, T., Bu, R., Beg, S., Al-Sobhi, S. S., Al-Dayel, F., Al-Dawish, M., Alkuraya, F. S., & Al-Kuraya, K. S. (2016). Genomic profiling of thyroid cancer reveals a role thyroglobulin in metastasis. American Society of Human Genetics, 98(6), 1170-1180. https://doi.org/10.1016/j.ajhg.2016.04.014

Silveiro, S. P. & Satler, F. (2015). Rotinas em Endocrinologia. Artmed.

Sociedade Brasileira de Endocrinologia e Metabologia. (2013, maio 25). Entendendo o câncer de tireoide. https://www.endocrino.org.br/entendendo-o-cancer-de-tireoide/

Tang, K. T., & Lee, C. H. (2010). BRAF Mutation in papillary thyroid carcinoma: Pathogenic role and clinical implications. Journal of the Chinese Medical Association, 73(3), 113-128. https://doi.org/ 10.1016/S1726-4901(10)70025-3

The Cancer Genome Atlas Research Network. (2014). Integrated genomic characterization of papillary thyroid carcinoma. Cell, 159(3), 676–690. http://doi.org/10.1016/j.cell.2014.09.050

Vilar, L. & Kater, C. (2021). Endocrinologia clínica (7a ed.). Guanabara Koogan.

Volpi, E. (2021). Câncer da tireoide- Fisiopatologia, diagnóstico, tratamento e perspectivas. Europa Press Comunicação Brasil.

Xing, M. (2010). Prognostic utility of BRAF mutation in papillary thyroid cancer. Molecular and Cellular Endocrinology, 321(1), 86-93. https://doi.org/10.1016/j.mce.2009.10.012

Xing, M., Alzahrani, A. S., Carson, K. A., Viola, D., Elisei, R., Bendlova, B., Yip, L., Mian, C., Vianello, F., Tuttle, R. M., Robenshtok, E., Fagin, J. A., Puxeddu, E., Fugazzola, L., Czarniecka,A., Jarzab, B., Neill, C. J. O., Sywak, M. S., Lam, A. K., Riesco-Eizaguirre, G., Santisteban, P., Nakayama, H., Tufano, R. P., Pai, S. I., Zeiger, M. A., Westra, W. H., Clark, D. P., Clifton-Bligh, R., Sidransky, D., Ladenson,P. W., & Sykorova, V. (2013). Association between BRAFV600E mutation and mortalityin patients with papillary thyroid cancer. Jama, 309(14), 1493-1501. https://doi.org/10.1001/jama.2013.3190

Xing, M., Westra, W. H., Tufano, R. P., Cohen, Y., Rosenbaum, E., Rhoden, K. J., Carson, K. A., Vasko, V., Larin, A., Tallini, G., Tolaney, S., Holt, E. H., Hui, P., Umbricht, C. B., Basaria, S., Ewertz M., Tufaro, A. P., Califano, J. A., Ringel, M. D., Zeiger, M. A., Sidransky, D., & Ladenson, P. W. (2005). BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. The Journal of Clinical Endocrinology & Metabolism, 90(12), 6373-6379. https://doi.org/10.1210/jc.2005-0987

Published

01/02/2023

How to Cite

MENDES, A. C. C. .; VIEGAS, L. C. .; DANZIGER, L. R. .; GOMES, E. V. . Molecular aspects of papillary thyroid carcinoma . Research, Society and Development, [S. l.], v. 12, n. 2, p. e11812239986, 2023. DOI: 10.33448/rsd-v12i2.39986. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/39986. Acesso em: 29 may. 2024.

Issue

Section

Health Sciences