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J Mol Diagn. 2016 Jan;18(1):100-8. doi: 10.1016/j.jmoldx.2015.08.003. Epub 2015 Nov 26.

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

Author information

1
Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts; Institute for Technology Assessment, Massachusetts General Hospital, Boston, Massachusetts. Electronic address: clubitz@partners.org.
2
Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts.
3
Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts.
4
Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts; Institute for Technology Assessment, Massachusetts General Hospital, Boston, Massachusetts.
5
Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.
6
Department of Medicine, Beth Israel Deaconess Medical Center, Boston, Massachusetts.

Abstract

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.

PMID:
26631873
PMCID:
PMC4715220
DOI:
10.1016/j.jmoldx.2015.08.003
[Indexed for MEDLINE]
Free PMC Article

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