Distribution of BRAF mutation according to epidemio-logical and histopathological characteristics in papil-lary thyroid cancer: A single-center observational study.

Abstract

Introduction: Thyroid cancer is positioned as one of the most prevalent neoplasms in Ecuador, typically manifesting in the fourth decade of life, with a higher incidence in women. The predominant histological subtype is papillary carcinoma (PTC), and various studies present shown that up to 80% of PTC cases present the BRAF mutation. This mutation has been associated with unfavorable prognostic factors, such as the presence of lymph node metastases, advanced tumor stages, extrathyroidal extension, and aggressive histological features. Additionally, a correlation has been observed with a higher recurrence rate and a reduced response to iodine treatment. Given this context, this research aims to analyze the distribution of the BRAF mutation according to epidemiological and histopathological characteristics in patients diagnosed with papillary thyroid cancer in Ecuador. 

Materials and methods: This retrospective descriptive study involved the analysis of genetic data from 106 medical records of patients diagnosed with papillary thyroid cancer who underwent BRAF mutation detection. The sample was selected based on established criteria.

Results: Evaluation of medical records revealed the presence of the BRAF mutation in 75% of cases. This percentage was higher in women, individuals over 45 years of age, and residents in urban areas. Regarding occupation, most patients were dedicated to cleaning work and had no personal history of exposure to ionizing radiation or a family history of cancer. Additionally, 84% of the patients were in clinical stage I and the neoplasms were located in the right thyroid lobe.

Conclusion: This analysis highlights the urgent need to identify risk factors linked to the appearance of papillary thyroid carcinoma in the Ecuadorian population. The results indicate a significant prevalence of the BRAF mutation, underlining its relevance as a prognostic marker in this disease. These findings may contribute to a better understanding of the epidemiology and pathogenesis of thyroid cancer leading to improvements  in prevention and treatment strategies at the local level.