Molecular mutations as a possible factor for determining extent of thyroid surgery

Area of Science:

• Oncology
• Molecular Diagnostics
• Genetics

Background:

• Molecular testing aids in understanding thyroid nodule characteristics.
• Identifying specific mutations can correlate with tumor aggressiveness.

Purpose of the Study:

• To investigate the relationship between specific gene mutations and aggressive thyroid tumor behavior.
• To correlate molecular findings with postoperative pathological analysis.

Main Methods:

• Retrospective review of 103 thyroid cancer cases with molecular testing (ThyGenX®).
• Analysis of mutations including BRAF V600E, RET/PTC1, TERT promoter, and others.
• Definition of aggressive behavior by extra-thyroidal extension (ETE), lymph node metastasis (LN+), and specific papillary thyroid carcinoma variants.

Main Results:

• BRAF V600E, RET/PTC1, and TERT promoter mutations were significantly associated with higher rates of ETE (37.1%) and LN+ (45.7%).
• These mutations also correlated with aggressive variants: tall cell (17.1%), columnar cell (5.7%), and hobnail (3%).
• Comparison groups with other or no mutations showed significantly lower rates of aggressive features.

Conclusions:

• BRAF V600E, RET/PTC1 rearrangement, and TERT promoter mutations are indicators of aggressive thyroid malignancies.
• Molecular testing can proactively identify aggressive tumor types, aiding surgical planning.