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Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
Detectable BRAF mutation in serum DNA samples from patients with papillary thyroid carcinomas
Tony C Y Chuang1, Alice Y C Chuang, Luana Poeta
1Department of Otolaryngology Head and Neck Surgery, Division of Head and Neck Cancer Research, Johns Hopkins Medical Institutions, Baltimore, MD 21287-0910, USA.
Head & Neck
|July 24, 2009
Summary
Researchers detected the BRAF V600E mutation in papillary thyroid carcinoma (PTC) tumors and sometimes in patient serum. This finding may aid in diagnosing PTC and monitoring disease progression.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Activating point mutations in the BRAF oncogene, specifically the V600E amino acid missense mutation, are prevalent in papillary thyroid carcinomas (PTC).
- Understanding the prevalence and detection of BRAF mutations is crucial for thyroid cancer diagnosis and management.
Purpose of the Study:
- To investigate the presence of the BRAF V600E mutation in both tumor and serum samples from patients with various thyroid disorders.
- To assess the potential of detecting circulating BRAF mutations for diagnostic purposes in PTC.
Main Methods:
- Analysis of 28 matched tumor and serum samples from patients with benign and malignant thyroid conditions.
- Utilized a gap-ligase chain reaction technique for precise BRAF mutation detection.
Main Results:
- BRAF mutation was absent in benign thyroid tumors (adenomas, follicular neoplasms) and thyroid lymphoma.
- The BRAF V600E mutation was identified in 5 out of 14 (35.7%) papillary thyroid carcinoma tumors.
- Mutant BRAF was detected in the serum of 3 out of 14 (21.4%) PTC patients, with these patients also showing tumor positivity.
Conclusions:
- Detection of free circulating mutant BRAF in patients with papillary thyroid carcinoma is feasible.
- Further research is warranted to establish the clinical significance of detecting circulating BRAF mutations for PTC management.
