Related Experiment Video
Updated: Jun 8, 2025
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
Association of BRAF V600E Mutation with Tumor Recurrence in a Small Sample of Filipino Patients with Papillary
Harold Henrison C Chiu1, Anna Angelica P Macalalad-Josue1, Dianne Grace S Corpuz1
1Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Philippine General Hospital, University of the Philippines Manila.
Background And Objective:
Epidemiological studies have shown that Filipinos have a higher prevalence of welldifferentiated thyroid cancer and a higher rate of recurrence. The BRAF V600E mutation has been proposed as a potential prognostic marker in aggressive papillary thyroid cancers. In this study, we determined whether this mutation is a risk factor for tumor recurrence in papillary thyroid cancer among Filipinos.
Methods:
We conducted an age and sex-matched case-control study of patients with papillary thyroid cancer; we had two groups - with and without tumor recurrence - of 14 patients each, with at least a 5-year follow-up. We extracted the DNA samples from the patients' (paraffin-embedded) tumor biopsy tissue blocks from thyroidectomy specimens, then detected the BRAF V600E mutation using polymerase chain reaction. The McNemar's test for difference of proportions in paired data was used to determine the association of BRAF V600E mutation with recurrence.
Results:
The BRAF V600E mutation was found in 57.14% of all cases. We found a prevalence of 64.29% among those with recurrence and 50.00% among those without recurrence, with no significant difference between the two groups (p = 0.688).
Conclusion:
Our study showed the BRAF V600E mutation was not associated with recurrence. We encountered several limitations: we had limited data regarding molecular methodologies in the Philippine setting, we had a small sample size, and therefore we could not study other parameters (e.g., tumor characteristics, lymph node metastasis, stage of disease). We hope that this paves the way for future studies and collaborations to establish the role of BRAF V600E in Filipinos with papillary thyroid tumor recurrence.
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
03:03mTOR Signaling and Cancer Progression
The mTOR pathway or the...
02:07Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...