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Item type:Publication, Evaluating Liquid Biopsy for Circulating Tumor DNA (ctDNA) Detection as a Complementary Diagnostic Tool in Thyroid Cancer Among Ecuadorian WomenThyroid cancer (TC) is the most common endocrine malignancy, with a rising global incidence. In Ecuador, TC rates are among the highest worldwide. Generally, fine-needle aspiration (FNA) remains the standard diagnostic tool; however, due to its limitations, alternative or complementary approaches are required. In this context, liquid biopsy, particularly circulating tumor DNA (ctDNA), offers a promising, minimally invasive option for tumor genotyping. Objective: This study evaluated the concordance between genetic variants identified in ctDNA and tumor tissue. Thirty-six women with papillary thyroid cancer were included. Tumor tissue and blood samples were collected, and DNA was extracted. Next-Generation Sequencing (NGS) using the TruSight Tumor 15 panel identified genetic variants in both ctDNA and tumor DNA. Variant pathogenicity was assessed following ACMG guidelines. Genetic ancestry was determined using Ancestry Informative Markers (AIMs). A total of 71 cancer-associated variants were detected, with 81.69% concordance between tumor DNA and ctDNA. TP53 was the most frequently mutated gene. While most pathogenic variants were found in tumor tissue, some variants appeared exclusively in ctDNA samples on specific patients, suggesting tumor heterogeneity. Ancestry analysis revealed a predominant Native American component (62.4%). Liquid biopsy demonstrates high concordance with tumor tissue analysis and holds potential as a complementary diagnostic tool for thyroid cancer. However, challenges such as low ctDNA yield and underrepresentation in genetic databases highlight the need for improved protocols and increased inclusion of admixed populations in genomic studies. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Thyroid cancer in Ecuador: A genetic variants review and a cross-sectional population-based analysis before and after COVID-19 pandemic(Elsevier BV, 2024-01); ; ; Objectives: The purpose of this study is to describe the genetic variants present in the Ecuadorian population and the incidence and mortality patterns of thyroid cancer in Ecuador from 2016 to 2021. Methods: The present research constitutes a nationwide cross-sectional study encompassing all reported cases of thyroid cancer (C-73) in Ecuador from 2016 to 2021. Incidence rates were calculated based on the annual population at risk, considering factors such as ethnicity, sex, age group, and the geographic location of the incidence. All data was collected from the Hospital Discharge Statistics and the Statistical Registry of General Deaths Databases. Results: Between 2016 and 2021, a total of 20,297 hospital admissions and 921 deaths attributed to thyroid cancer were reported in Ecuador. The incidence of thyroid cancer remained relatively stable from 2016 to 2019. However, there was a notable decrease in 2020, followed by an increase in 2021. Notably, thyroid cancer prevalence rates were found to be higher in highlands regions. Moreover, two genetic variants, the BRAFV600E and KITL678F, have been identified in the Ecuadorian population. It is noteworthy that women exhibited a higher susceptibility to thyroid cancer, being five times more likely than men to develop this condition. Conclusion: Ecuador exhibits one of the highest global incidences of thyroid cancer. Consequently, describing the genetic variants and epidemiological characteristics of thyroid cancer is imperative for enhancing healthcare access and formulating evidence-based public health policies. This research contributes towards a comprehensive understanding of thyroid cancer in the Ecuadorian context, aiming to improve targeted interventions and health outcomes.Scopus© Citations 7