[Molecular diagnostics of thyroid nodule]

Area of Science:

• Endocrinology
• Oncology
• Molecular Biology

Context:

• Nodular goiter is common, but malignant nodules requiring surgery are rare.
• Fine-needle aspiration biopsy cytology is the primary diagnostic tool for thyroid nodules.
• Approximately 15% of thyroid nodule cytologies are indeterminate, necessitating further diagnostic approaches.

Purpose:

• To explore the utility of molecular biology in refining the diagnosis of indeterminate thyroid nodules.
• To evaluate the effectiveness of new molecular tests in differentiating benign from malignant thyroid nodules.

Summary:

• Molecular markers like BRAF, RAS, RET, TRK, and PAX8/PPARγ gene alterations are frequent in thyroid carcinomas.
• New tests combining gene expression profiles and specific genetic alterations show high reliability in excluding malignancy in indeterminate cytology cases.
• Despite good sensitivity, these molecular tests have limitations in specificity and cost, impacting their widespread clinical application.

Impact:

• Improved diagnostic accuracy for indeterminate thyroid nodules, potentially reducing unnecessary surgeries.
• Highlights the role of molecular diagnostics in thyroid cancer management.
• Identifies areas for improvement in molecular testing for thyroid nodules, focusing on specificity and cost-effectiveness.