Detection of driver mutations in plasma cell--free nucleic acids in differentiated thyroid neoplasm.

This article focuses on the detection of driver mutations in plasma cell–free nucleic acids as a noninvasive diagnostic tool for differentiated thyroid neoplasms. In a prospective study of 223 patients with solitary thyroid nodules, an 8-gene panel (including BRAF V600E, RET/PTC1, RET/PTC3, TERT promoter, HRAS, NRAS, KRAS, and PAX8-PPARG) was used to detect mutations in plasma, fine-needle aspiration cytology (FNAC), and histopathology samples. Driver mutations were identified in plasma in approximately 80% of malignant cases and in nearly 90% of follicular adenomas via RAS mutations, with strong concordance among plasma, FNAC, and tissue findings. The study suggests that plasma-based liquid biopsy could serve as a useful preoperative and postoperative tool, particularly for indeterminate nodules, with potential applications in detecting residual tumor and monitoring recurrence, though further research is needed to validate these clinical utilities.