Detection of Circulating BRAF(V600E) in Patients with Papillary Thyroid Carcinoma.

Journal Article (Journal Article)

BRAF(V600E) is a common mutation in papillary thyroid carcinoma (PTC) correlated with aggressive features. Our objective was to assess the feasibility and accuracy of a novel RNA-based blood assay to identify individuals with a high-risk tumor mutation in patients with PTC. Patients with benign or malignant thyroid disorders were included between September 2013 and July 2014 before either thyroidectomy (n = 62) or treatment of recurrent or metastatic PTC (n = 8). RNA was isolated from peripheral blood lymphocytes and reverse transcribed and followed by two rounds of nested PCR amplification with a restriction digest specific for wild-type BRAF. BRAF(V600E) levels were quantified with standardization curves. Circulating BRAF(V600E) levels were compared with BRAF mutation status from surgical pathologic DNA-based tissue assays. Testing characteristics and receiving-operator curve using tissue results as the gold standard were assessed. Matched blood and tissue assays for BRAF(V600E) were performed on 70 patients with PTC (stages I to IV, n = 48) or other (n = 22) thyroid tumors. Sixty-three percent of PTC patients tested positive for BRAF(V600E) with conventional tissue assays on surgical specimens. The correlation between the RNA-based blood assay and tissue BRAF status was 0.71. PTC patients harbor detectable BRAF(V600E) circulating tumor cells. This blood assay is feasible and has potential as a biomarker for prognosis, surveillance, clinical decision making, and assessment of treatment response to BRAF-targeted therapies.

Full Text

Duke Authors

Cited Authors

  • Lubitz, CC; Parangi, S; Holm, TM; Bernasconi, MJ; Schalck, AP; Suh, H; Economopoulos, KP; Gunda, V; Donovan, SE; Sadow, PM; Wirth, LJ; Sullivan, RJ; Panka, DJ

Published Date

  • January 2016

Published In

Volume / Issue

  • 18 / 1

Start / End Page

  • 100 - 108

PubMed ID

  • 26631873

Pubmed Central ID

  • PMC4715220

Electronic International Standard Serial Number (EISSN)

  • 1943-7811

International Standard Serial Number (ISSN)

  • 1525-1578

Digital Object Identifier (DOI)

  • 10.1016/j.jmoldx.2015.08.003


  • eng