AACE MENA 2025-Molecular Basis of Thyroid Cancer and its Translational Implications

Molecular Basis of Thyroid Cancer and its Translational Implications

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Video Summary

This presentation explores the molecular genetics of thyroid cancer, emphasizing its diagnostic, prognostic, and therapeutic significance. Key genetic alterations include mutations (e.g., BRAF, RAS, TERT promoter, TP53), gene fusions (e.g., RET), and copy number alterations affecting key pathways like MAP kinase and PI3K-AKT-mTOR. Molecular profiling differentiates thyroid cancer subtypes—papillary, follicular, poorly differentiated, and anaplastic—with distinct genetic signatures guiding prognosis and treatment. Molecular testing (e.g., Afirma GSC, ThyroSeq v3) helps evaluate indeterminate thyroid nodules, reducing unnecessary surgeries by accurately ruling out malignancy. Studies show molecular risk stratification correlates with clinical outcomes, informing tailored patient management. Targeted therapies (e.g., dabrafenib/trametinib for BRAF mutations, RET inhibitors for medullary thyroid cancer) have improved survival, especially in aggressive forms like anaplastic thyroid cancer. Overall, molecular genetics is integral to precision medicine in thyroid cancer, enhancing diagnosis, prognostication, and personalized treatment decisions, with ongoing research expanding its clinical utility.

Keywords

thyroid cancer

molecular genetics

BRAF mutation

molecular profiling

targeted therapy

precision medicine