Related Experiment Video
Updated: Dec 23, 2025
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
BRAFV600E Mutation is Associated with an Increased Risk of Papillary Thyroid Cancer Recurrence
Samuel Enumah1, Abbey Fingeret2, Sareh Parangi3
1Brigham and Women's Hospital, 75 Francis St. CA-034, Boston, MA, 02115, USA.
Background:
Papillary thyroid carcinoma is the most common endocrine malignancy and one of the most common cancers worldwide. However, the optimal timing and frequency of surveillance to assess for recurrence remain undetermined. As the incidence of thyroid cancer continues to rise worldwide, identifying risk factors for recurrence and investigating intervals and durations of surveillance are paramount to adapt treatment and follow-up plans to high-risk individuals and to reduce interventions for low-risk patients.
Methods:
Our dataset included an unselected cohort of papillary thyroid carcinoma (PTC) patients who underwent a total thyroidectomy (or unilateral then completion thyroidectomy) at a single institution from 2000 to 2007. BRAF genotyping was performed on available specimens by a validated PCR-based assay. Pathologic structural recurrence was the primary outcome. We performed univariate and multivariable analyses to identify predictors of cancer recurrence.
Results:
In total, 599 patients underwent complete resection of the thyroid gland for PTC. The cohort was young (mean age 45.0 years), predominately female (n = 462, 76.9%), and median follow-up was 10.3 years (IQR 5.4-12.2). Recurrence occurred more commonly in the BRAFV600E group (18.6 vs. 9.9%, p = 0.02). BRAF independently predicted PTC recurrence (HR 2.81, p = 0.006).
Conclusions:
BRAF mutation is an independent predictor of papillary thyroid carcinoma long-term recurrence. Understanding molecular characteristics of individual thyroid cancers may help risk-stratify patients and direct them toward more appropriate initial care and long-term surveillance strategies.
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
02:23Abnormal Proliferation
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
03:18Non-LTR Retrotransposons
01:23The Thyroid Gland
The follicles have a central cavity lined by simple cuboidal to squamous epithelial cells called follicular cells. These cells produce the glycoprotein...
01:20Synthesis and Regulation of Thyroid Hormones
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...