BRAF V600E Mutation Detection in Indeterminate Thyroid Nodules
Author Information
Author(s): Leslie R Rowe, Brandon G Bentz, Joel S Bentz
Primary Institution: University of Utah
Hypothesis
Can BRAF V600E mutation detection refine indeterminate preoperative cytologic diagnoses in patients with papillary thyroid carcinoma?
Conclusion
BRAF mutation analysis may help confirm malignancy in indeterminate FNA samples, but the overall tumor cell content can limit detection.
Supporting Evidence
- BRAF mutation analysis confirmed the preoperative diagnosis of PTC in 3 out of 19 indeterminate FNA samples.
- 9 out of 19 corresponding FFPE surgical samples were positive for the BRAF mutation.
- There was a 69% rate of concordance for BRAF mutation status between paired indeterminate FNA and malignant FFPE tissue specimens.
Takeaway
This study looked at thyroid nodules that were hard to diagnose and found that checking for a specific gene mutation can help doctors know if it's cancer.
Methodology
The study used archival indeterminate thyroid FNAs and corresponding FFPE surgical samples to evaluate BRAF V600E mutation detection using LightCycler PCR.
Limitations
The overall tumor cell content of some archival FNA smear slides limited mutation detection.
Participant Demographics
Median patient age was 40 years.
Digital Object Identifier (DOI)
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