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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
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Association of BRAF V600E Mutant Allele Proportion with the Dissemination Stage of Papillary Thyroid Cancer
Ivan Blazekovic1,2, Ivan Samija1,3, Josipa Perisa1
1Department of Oncology and Nuclear Medicine, University Hospital Center Sestre Milosrdnice, 10 000 Zagreb, Croatia.
Biomedicines
|March 28, 2024
Summary
The BRAF V600E mutation in papillary thyroid cancer (PTC) is not significantly associated with disease spread. However, it is linked to angioinvasion, suggesting a complex role in PTC aggressiveness.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Early identification of aggressive papillary thyroid cancer (PTC) is crucial for effective treatment.
- Disease dissemination significantly impacts patient survival in PTC.
- The BRAF V600E mutation is a known indicator of recurrence, but its role in PTC dissemination requires further investigation.
Purpose of the Study:
- To investigate the association between BRAF V600E allele frequency and disease dissemination in papillary thyroid cancer.
- To explore the correlation of BRAF V600E mutation with PTC aggressiveness and angioinvasion.
Main Methods:
- Analysis of 173 PTC samples using quantitative PCR (qPCR) to measure BRAF V600E allele proportion.
- Normalization of BRAF V600E allele frequency against tumor cell proportion.
- Semiquantitative assessment of BRAF V600E mutant protein via immunohistochemistry.
Main Results:
- The BRAF V600E mutation was detected in 60% of PTC samples.
- Normalized BRAF V600E allele frequency varied widely, from 1.55% to 92.06%.
- No significant association was found between BRAF V600E mutation presence/proportion and PTC dissemination.
- A significant link was observed between the presence of the BRAF mutation and angioinvasion.
Conclusions:
- The BRAF V600E mutation alone may not be a primary driver of papillary thyroid cancer aggressiveness.
- Results indicate a heterogeneous distribution of the BRAF mutation and potential oligoclonal nature of PTC.
- Further research is needed to fully elucidate the role of BRAF mutations in PTC progression and dissemination.
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