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TIROSEC: Molecular, Clinical and Histopathological Profile of Papillary Thyroid Carcinoma in a Colombian Cohort

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Abstract

Introduction

In Colombia, thyroid cancer ranks among the highest incidences, yet our population lacks studies on its molecular profile. This study aims to characterize clinical, histopathologic and molecular data in a Colombian cohort with papillary thyroid carcinoma (PTC).

Methods

A retrospective review of clinical history, clinicopathologic characteristics, treatment and 5–10-year follow-up for all patients was done. DNA and RNA were extracted from formalin-fixed paraffin-embedded (FFPE) tissue using the Quick-DNA & RNA FFPE Min iPrep kit (Zymo Research). Next-generation sequencing (NGS) analysis was performed with SOPHiA Solid Tumor Solutions kit (SOPHiA GENETICS). Tumor mutation genomic analysis used SOPHiA DDM™ platform, with descriptive analysis reporting frequencies, means and associations via chi-square analysis.

Results

Among 231 sequenced patients, mean age at diagnosis was 46 (± 12.35) years, with higher frequency in women (81.82%). Two cases were reclassified as non-invasive follicular thyroid neoplasm (NIFT-P); an NRAS mutation was found in one of them. Predominant histologic subtype was classic PTC (57.64%) followed by tall cell (28.82%). Of the 229 sequenced carcinomas, mutations were identified in 186 cases, including BRAF, IDH1, RAS and PIK3CA. Notable copy number variations (CNVs) were PDGFRA, CDK4 and KIT, with RET being the most frequent gene fusion, including CCDC6-RET in two classic subtype cases.

Conclusion

This is the first study in Colombia (TIROSEC) to our knowledge that integrates molecular and histopathologic profiles enriching our local comprehension and knowledge of PTC. The identification of target mutations such as BRAF, RET and NTRK fusions holds the potential to guide targeted therapies for tumor recurrence and predict aggressive behavior.

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Data Availability

All data generated or analyzed during this study are included in this published article/as supplementary information files.

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Medical Writing/Editorial Assistance

This article did not receive medical writing assistance or editorial assistance from outside the working group.

Funding

The study was funded by the Ministry of Sciences of Colombia through contract RC no. 635 of 2018, which covered the study's development, socialization and publication costs.

Author information

Authors and Affiliations

  1. Pathology Department, Univeristy Hospital Fundación Santa Fe de Bogotá, Bogotá, Colombia

    Sergio D. Cruz-Romero, Sebastián González, Ana M. Baldión & Paula A. Rodríguez-Urrego

  2. School of Engineer, Los Andes University, Bogotá, Colombia

    José Y. Juez

  3. Faculty of Medicine, Nacional University, Bogotá, Colombia

    David S. Becerra

  4. Head and Neck Surgery, University Hospital Fundación Santa Fe de Bogotá, Bogotá, Colombia

    José A. Hakim

  5. Endocrine Division, University Hospital Fundación Santa Fe. Bogotá, Bogotá, Colombia

    Deyanira González-Devia

  6. Nutrition, Genetics, and Metabolism Research Group, El Bosque University, Bogotá, Colombia

    Sandra Perdomo

  7. Genomic Epidemiology Branch, International Agency for Research On Cancer (IARC/WHO), Lyon, France

    Sandra Perdomo

Authors
  1. Sergio D. Cruz-Romero
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  2. Sebastián González
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  9. Paula A. Rodríguez-Urrego
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Contributions

Conceptualization: PAR-U, SP; methodology: PAR-U, AMB, SP; formal analysis and investigation: PAR-U, SDC-R, SG; writing—original draft preparation: PAR-U, SDC-R, SG; writing—review and editing: PAR-U, SDC-R, SG; funding acquisition: PAR-U, SP; resources: JYJ, DB, JAH, DG-G; supervision: PAR-U, AMB, SP.

Corresponding author

Correspondence to Paula A. Rodríguez-Urrego.

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Conflict of Interest

The authors declare that they have no conflicts of interest regarding the research topic. Where authors are identified as personnel of the International Agency for Research on Cancer/World Health Organization, the authors alone are responsible for the views expressed in this article and they do not necessarily represent the decisions, policy, or views of the International Agency for Research on Cancer/World Health Organization.

Ethical Approval

The study received approval from the Corporate Research Ethics Committee of the Fundación Santa Fe de Bogotá, and this approval was subsequently renewed through the CCEI-15519-2023 statement. The research adhered to the principles outlined in the Declaration of Helsinki, considering the risks, benefits, as well as privacy and confidentiality. Given its retrospective nature, utilizing archival material from the Fundación Santa Fe de Bogotá and clinical history records without interventions or samples from the population, obtaining informed consent was deemed unnecessary.

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Cruz-Romero, S.D., González, S., Juez, J.Y. et al. TIROSEC: Molecular, Clinical and Histopathological Profile of Papillary Thyroid Carcinoma in a Colombian Cohort. Adv Ther 41, 792–805 (2024). https://doi.org/10.1007/s12325-023-02756-y

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