Detection of driver mutations in plasma cell–free nucleic acids in differentiated thyroid neoplasm
Authors' conclusion
Plasma might be a viable noninvasive alternative source for detection of driver mutations (8-gene panel) in subjects with differentiated thyroid tumors and may have significant clinical utility.
Study context
- Population
- Subjects with thyroid nodule, endocrinology clinic; Ultrasonographic (USG) with TIRADS scoring and FNA cytology (FNAC) (Bethesda classification)
- Participants
- 223 subjects
- Comparison
- Plasma cell-free nucleic acids vs FNAC and histopathology for driver mutations
- Benignn = 154reference
- Differentiated thyroid cancern = 69
- Outcome
- Driver mutations (8-gene panel: BRAF-V600E, RET/PTC3, RET/PTC1, TERT promoter, HRAS, NRAS, KRAS, PAX8-PPARG) in plasma, fine-needle aspiration (FNA) and histopathology material
Methodological detailsproof-of-concept
- Proof-of-concept
Performance
As reported in the abstract
Driver mutation detected in plasma
Differentiated thyroid cancer
79.71%
55 of 69
Benign
11
events
Original publication
Detection of driver mutations in plasma cell–free nucleic acids in differentiated thyroid neoplasm. Eur J Endocrinol. Published 10 January 2023. doi:10.
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