Molecular Aspects of Thyroid Cancer

  • Understanding the genetic mutations associated with thyroid cancer has become increasingly important. The most common genetic mutations found in thyroid cancer include BRAF, RAS, RET/PTC, and PAX8/PPARγ. These mutations can provide valuable information for diagnosis, prognosis, and targeted treatment approaches.
  • Molecular testing, such as next-generation sequencing (NGS), has gained prominence in thyroid cancer diagnosis and management. It allows for the identification of specific genetic alterations and can guide treatment decisions. Testing for specific genetic mutations, such as BRAF V600E, may help determine the use of targeted therapies like BRAF inhibitors.
  • Advances in understanding the molecular alterations in thyroid cancer have led to the development of targeted therapies. Tyrosine kinase inhibitors (TKIs) have shown promise in treating advanced or metastatic thyroid cancer, particularly those with RET rearrangements, BRAF mutations, or vascular endothelial growth factor receptor (VEGFR) mutations.
  • Immune checkpoint inhibitors, such as pembrolizumab and nivolumab, have shown effectiveness in a subset of patients with advanced or refractory thyroid cancer. These therapies work by unleashing the immune system to target cancer cells. However, response rates can vary, and not all patients will benefit from immunotherapy.
  • Molecular testing can help refine risk stratification in thyroid cancer. Genetic profiling of the tumor can aid in distinguishing low-risk from high-risk thyroid cancers, allowing for tailored treatment plans and surveillance strategies.

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