Molecular testing for oncogenic gene mutations in thyroid lesions: a case-control validation study in 413...

Area of Science:

• Oncology
• Molecular Diagnostics
• Endocrinology

Background:

• Molecular testing for oncogenic gene alterations is crucial for managing follicular cell thyroid cancer.
• Understanding the distribution of gene mutations in thyroid lesions is essential for diagnosis and treatment.

Purpose of the Study:

• To determine the frequency and distribution of common oncogenic gene mutations and chromosomal rearrangements in various thyroid lesions.
• To validate the diagnostic utility and performance of molecular testing in surgical specimens.

Main Methods:

• A case-control study analyzed 413 surgical thyroid cases across 17 histopathologic categories.
• Seventeen gene alterations (BRAF, HRAS, KRAS, NRAS, PAX8, RET) were evaluated using a single validated technology platform.
• Analytical sensitivity, accuracy, and precision were verified in model and surgical specimens.

Main Results:

• 152 molecular positive results were identified in lesions across different stages of progression and differentiation.
• Single mutations were found in 58% of malignant lesions versus 12% of benign lesions (P < .001).
• BRAF or RET-PTC mutations were exclusive to malignant lesions, while RAS or PAX8-PPARG mutations appeared in adenomas.

Conclusions:

• Molecular testing demonstrates significant diagnostic utility for oncogenic mutations in thyroid lesions.
• Validated molecular panels can enhance preoperative and postoperative assessment of thyroid nodules.
• These findings support the use of molecular testing for diagnostic, prognostic, and theranostic applications in thyroid cancer.