ECE2014 Poster Presentations Thyroid Cancer (70 abstracts)
Occurrence other than V600E mutation in the BRAF gene 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: BRAFV600E mutation constitutes 98–99% of all detected mutation in thyroid carcinoma. The remaining 2% are BRAF mutations detected in the vicinity of codon V600. Due to the low incidence not much is known about their importance for the development of papillary thyroid carcinoma (PTC). In addition, some of these mutations co-occur with the mutation BRAFV600E.
Methods/design: The study presents 15 cases with mutations other than BRAFV600E detected during routine diagnostics of 485 cases of PTC using direct sequencing. For comparative analyzes we used published literature data.
Results: Among the 15 mutations analyzed, three mutations (2×p.V600_K601delinsE and p.T599_V600insT) already detected in the PTC. In contrast, mutations: p.G593S, p.F610S, p.L588P, p.L584F, p.F595L, p.D594N and p.S616F already have been described in cases of malignant melanoma. Other mutations: p.V600_604WdelinsE, p.598_599insI, p.E611K, p.S614F, p.H608Y, p.G615E weren’t detected previously in PTC. However, in those codons previously described different amino acids changes in malignant melanoma and PTC. In six cases of PTC in addition to V600E other mutations detected: p.E611K, p.L588P, p.V600_K600EdelinsE, p.H608Y, p.S616F and in one case even two additional: p.G593S, p.F610S.
Conclusions: Mutations other than BRAFV600E are relatively rare (2–3% of BRAF mutation in PTC) and predominantly locate in the vicinity of the codon V600. Literature review suggests that some have already been described in the PTC and in other tumors (malignant melanoma, pancreas and large intestine). This suggests that these mutation could have oncogenic potential which may be responsible for oncogenesis of PCT. The presence of more than one mutation suggests the clonality and active process of tumorigenesis in PTC, which could be important for clinical outcomes. However, for a comprehensive explanation of the significance of these mutations in the oncogenesis of PTC we need more basic research.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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