ECE2014 Poster Presentations Thyroid Cancer (70 abstracts)
Impact of different methods on the detection frequency of BRAF mutation in papillary thyroid carcinoma
Artur Kowalik 1 , Aldona Kowalska 1 , Janusz Kopczynski 1 , Agnieszka Walczyk 1 , Ewelina Nowak 1 , Elzbieta Wypiorkiewicz 1 , Renata Chodurska 1 , Liliana Pieciak 1 & Stanislaw Gozdz 1,
1Holycross Cancer Center, Kielce, Poland; 2Jan Kochanowski University, Kielce, Poland.
Introduction: Still there is a discussion about the importance of diagnostic and prognostic relevance BRAFV600E mutation. The wide range of BRAFV600E mutation frequency (40–80%) doesn’t facilitate this task. Population diversity and genotyping methodology are suspected sources of differences seen in the mutation frequencies detected by different studies. The aim of this study was to assess the prevalence BRAF V600E mutation depending on the diagnostic method used.
Methods/design: Tumors from 411 consecutive patients with PTC genotyped for BRAFV600E using capillary sequencing and ASA-PCR.
Results: Of the 411 cases genotyped using both methods capillary sequencing and ASA–PCR BRAFV600E mutation detected in 270 cases (65.7%) and 8 (1.9%) other mutations detected in the BRAF near codon V600 (total 278 (67.6%) mutations). In contrast, no mutations were found in 121 (29.4%) cases. DNA degradated in 12 (2.9%) cases. If we take into account only the results obtained by sequencing BRAFV600E mutation detected in 186 (45.3%) cases and 8 (1.9%) other mutations in the vicinity of codon BRAFV600E. In total sequencing detected 194 (47.2%) mutations in the BRAF. In 151 (36.7%) cases no mutation detected. In 31 (7.5%) cases sequencing result was inconclusive. DNA degradated in 35 (8.5%) cases. However, with the ASA-PCR method BRAFV600E mutations were found in 270 (65.7%) cases. This method only detects the V600E mutation, so it hasn’t detected eight cases with mutations located in the vicinity of the BRAF V600. In 27 (6.6%) cases the DNA was degraded and one result was inconclusive.
Conclusion: The frequency of detected mutations in the BRAF depends on the method. The combination of methods with different sensitivity and spectrum of detected mutations increases the incidence of PTC with BRAFV600E. Differences in the frequency of BRAF mutations in PTC described the literature may be the result of applied research methodology.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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