Evaluation of the Real-Q BRAF V600E Detection Assay in Fine-Needle Aspiration Samples of Thyroid Nodules.
Recently, several molecular assays for detecting the BRAF V600E mutation in fine-needle aspiration (FNA) specimens have been developed. Herein, we tested 294 consecutive FNA samples from patients with thyroid nodules with the Real-Q BRAF V600E detection assay (Real-Q). These results were compared with an allele-specific PCR-based kit using dual-priming oligonucleotides (AS-PCR). Any discordant results between the two tests were also analyzed by mutant enrichment with 3'-modified oligonucleotide sequencing. A total of 128 cases were confirmed histologically; of these, 121 were diagnosed as papillary thyroid carcinoma (PTC). The BRAF mutation was detected by Real-Q and AS-PCR testing in 80.2% (95% CI, 71.9%-86.9%) and 76.9% (95% CI, 68.3%-84.0%), respectively, of FNA specimens with PTC. Combining the BRAF V600E molecular assays (Real-Q and AS-PCR) with cytological diagnoses of malignant and suspicious for malignant cells, the detection rates (sensitivity) of Real-Q and AS-PCR for diagnosis of PTC increased to 94.2% (95% CI, 88.4%-97.6%) and 92.6% (95% CI, 86.4%-96.5%), respectively. In conclusion, the detection of BRAF V600E mutations in PTC by Real-Q is compatible to that of AS-PCR.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Kyung Sun
KS
Park
Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Young L
YL
Oh
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address: changski@skku.edu.
Chang-Seok
CS
Ki
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Jong-Won
JW
Kim
D000236:Adenoma / Q000175:diagnosis* / Q000235:genetics; D044963:Biopsy, Fine-Needle; D002291:Carcinoma, Papillary / Q000175:diagnosis* / Q000235:genetics; D004252:DNA Mutational Analysis; D017931:DNA Primers; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics; D016606:Thyroid Nodule / Q000175:diagnosis* / Q000235:genetics
D017931:DNA Primers; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf