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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한외과학회 Annals of Surgical Treatment and Research Annals of Surgical Treatment and Research Vol.109 No.5
- 발행연도
- 2025.11
- 수록면
- 302 - 309 (8page)
이용수
초록· 키워드
Purpose: The BRAF<sup>V600E</sup> mutation is a common genetic alteration in papillary thyroid carcinoma (PTC) and is associated with poor prognostic factors. Accurate detection is crucial for risk stratification. This study compares the performance of direct Sanger sequencing (SS), immunohistochemistry (IHC), and droplet digital PCR (ddPCR) in detecting the BRAF<sup>V600E</sup> mutation in PTC.
Methods: Tumor samples from patients undergoing thyroidectomy were analyzed for BRAF<sup>V600E</sup> using SS, IHC, and ddPCR. A mutant allele fraction >1% was considered ddPCR positive. Sensitivity and concordance rates were evaluated.
Results: A total of 48 PTC and 9 benign samples were tested. All benign samples were negative for BRAFV600E by both SS and ddPCR. Among PTC cases, the mutation was detected in 72.9% by SS, 89.6% by IHC, and 83.3% by ddPCR. Both IHC and ddPCR were significantly more sensitive than SS (P = 0.001 and P < 0.001, respectively). Concordant results across all 3 methods were seen in 83.3% of PTC cases. Among the 8 discordant samples (all SS-negative), 5 were positive by both IHC and ddPCR, and 3 were IHC-positive only. Of these, 6 showed adenine peaks on SS chromatograms, with a mean ddPCR mutant allele fraction of 14.5%, compared to 0.36% in the 2 without adenine peaks.
Conclusion: IHC and ddPCR demonstrated superior sensitivity compared to SS for detecting BRAF<sup>V600E</sup> mutations in PTC. These findings support the use of IHC and ddPCR as more reliable alternatives to SS in clinical practice.
Methods: Tumor samples from patients undergoing thyroidectomy were analyzed for BRAF<sup>V600E</sup> using SS, IHC, and ddPCR. A mutant allele fraction >1% was considered ddPCR positive. Sensitivity and concordance rates were evaluated.
Results: A total of 48 PTC and 9 benign samples were tested. All benign samples were negative for BRAFV600E by both SS and ddPCR. Among PTC cases, the mutation was detected in 72.9% by SS, 89.6% by IHC, and 83.3% by ddPCR. Both IHC and ddPCR were significantly more sensitive than SS (P = 0.001 and P < 0.001, respectively). Concordant results across all 3 methods were seen in 83.3% of PTC cases. Among the 8 discordant samples (all SS-negative), 5 were positive by both IHC and ddPCR, and 3 were IHC-positive only. Of these, 6 showed adenine peaks on SS chromatograms, with a mean ddPCR mutant allele fraction of 14.5%, compared to 0.36% in the 2 without adenine peaks.
Conclusion: IHC and ddPCR demonstrated superior sensitivity compared to SS for detecting BRAF<sup>V600E</sup> mutations in PTC. These findings support the use of IHC and ddPCR as more reliable alternatives to SS in clinical practice.
#Immunohistochemistry
#Papillary thyroid cancer
#Polymerase chain reaction
#Proto-oncogene proteins B-raf
#Sequence analysis
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목차
- INTRODUCTION
- METHODS
- RESULTS
- DISCUSSION
- REFERENCES
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