Panel Testing of BRAF Mutation, RAS Mutation, and RET/PTC Rearrangements or RET Mutation Using Fine-Needle Aspiration...

Area of Science:

• Endocrinology
• Oncology
• Molecular Diagnostics

Background:

• Thyroid carcinoma (TC) is a common endocrine malignancy.
• Accurate pathological evaluation is crucial for TC diagnosis and management.

Purpose of the Study:

• To investigate the diagnostic value of multigene detection (BRAF, RAS, RET) in evaluating thyroid carcinoma.
• To correlate gene mutations with pathological features and clinical outcomes.

Main Methods:

• Retrospective analysis of 213 fine-needle aspiration samples (176 TC, 37 benign).
• Polygenic mutation detection (BRAF, RAS, RET) using fine-needle aspiration samples.
• Correlation analysis of gene mutations with surgical and pathological results.

Main Results:

• Multigene panel testing demonstrated superior diagnostic accuracy and sensitivity compared to single-gene (BRAF, RAS, RET) testing for TC.
• Combined detection showed a higher area under the curve (0.9396) than individual genes.
• RAS and RET mutations correlated with lymph node metastasis (p < 0.05).
• Mutation status correlated with histological subtypes.

Conclusions:

• BRAF mutations are linked to papillary TC, RAS to follicular TC, and RET to medullary TC.
• Combined detection of RAS and RET mutations correlates with TC pathological characteristics.
• Multigene analysis provides enhanced diagnostic and evaluative tools for TC.