Current Concepts in the Molecular Genetics and Management of Thyroid Cancer: An Update for Radiologists

Area of Science:

• Oncology
• Molecular Biology
• Radiology

Background:

• Thyroid cancer understanding has advanced, identifying specific molecular alterations like BRAF and RET mutations.
• Current diagnostic cornerstones include ultrasonography (US) and US-guided biopsy.
• Surgery and radioactive iodine (RAI) therapy are mainstays for differentiated thyroid cancer.

Purpose of the Study:

• To review the current understanding of oncogenic pathways in various thyroid cancer subtypes.
• To discuss the role of diagnostic imaging and surveillance in thyroid cancer management.
• To explore treatment strategies, including molecularly targeted therapies for RAI-refractory metastatic thyroid cancer.

Main Methods:

• Review of molecular alterations in papillary, follicular, medullary, and anaplastic thyroid cancers.
• Description of diagnostic imaging modalities: US, CT, MRI, and PET/CT.
• Overview of current and emerging therapeutic approaches, including targeted therapies.

Main Results:

• Specific mutations (e.g., BRAF, RET, RAS, TP53, PI3K/AKT1) are linked to different thyroid cancer types.
• Certain mutations correlate with aggressive disease courses, necessitating close surveillance.
• Molecularly targeted therapies (sorafenib, lenvatinib, etc.) show promise for RAI-refractory metastatic thyroid cancer, targeting VEGFR and RET kinases.

Conclusions:

• Molecular profiling is crucial for understanding thyroid cancer subtypes and predicting prognosis.
• Advanced imaging and targeted therapies are vital for managing advanced and refractory thyroid cancer.
• Monitoring treatment response and toxic effects through imaging is essential for effective patient management.