Comparison of the Clinical Validity of Droplet Digital PCR to ARMS-PCR for BRAF V600E Mutation Detection in Thyroid Nodules.

Journal of Clinical Laboratory Analysis
Xiubo LiYuying Zhang

Abstract

Droplet digital PCR (ddPCR) has been reported to have a superior validity over PCR with amplification-refractory mutation system (ARMS-PCR) for detecting the BRAF V600E mutation in thyroid nodule fine-needle aspiration (FNA) samples using cytological diagnosis as the reference. However, the added value of ddPCR on surgical decision-making remains to be illustrated when the technique is combined with FNA cytology. A total of 277 consecutive patients with thyroid nodules were subjected to FNA cytology and BRAF V600E testing with ARMS-PCR. Within this patient cohort, 90 patients underwent surgical intervention with pathological diagnosis available. BRAF V600E testing with ddPCR was performed retrospectively using FNA frozen DNA specimens. The clinical validity and utility of ddPCR in comparison with ARMS-PCR were compared using surgical pathology as the reference. Overall, 101 BRAF V600E mutations were detected by ddPCR, including five ARMS negative patients, four of whom were confirmed to have papillary thyroid cancer (PTC) by surgical pathology. Of the 90 patients with surgical pathology, which is considered the gold standard, ddPCR BRAF V600E testing yielded a sensitivity of 91.3% and specificity of 100% for PTC diagnosis, high...Continue Reading

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Citations

May 29, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Yinxi ChenShuqun Zhang

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Methods Mentioned

BETA
PCR
biopsy
Assay

Software Mentioned

ARMS
QuantaSoft
QuantDrop
SPSS

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