Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2014) 35 P1133 | DOI: 10.1530/endoabs.35.P1133

ECE2014 Poster Presentations Thyroid Cancer (70 abstracts)

The presence of BRAFV600E mutation in patients diagnosed of papillary thyroid carcinoma in holycross cancer centre in Kielce, Poland

Agnieszka Walczyk 1 , Aldona Kowalska 1 , Artur Kowalik 2 , Janusz Kopczynski 3 , Elzbieta Wypiórkiewicz 2 , Renata Chodurska 2 , Liliana Pieciak 2 & Stanislaw Gozdz 4,

1Department of Endocrinology, Holycross Cancer Centre, Kielce, Poland; 2Department of Molecular Diagnostics, Holycross Cancer Centre, Kielce, Poland; 3Department of Surgical Pathology, Holycross Cancer Centre, Kielce, Poland; 4Department of Chemotherapy, Holycross Cancer Centre, Kielce, Poland; 5Faculty of Health Sciences, Jan Kochanowski University, Kielce, Poland.

Background: The activating somatic point mutation, BRAFV600E, is the most common genetic alteration observed in papillary thyroid carcinoma (PTC) but its oncogenic role in PTC has been extensively investigated. Numerous studies reported that BRAFV600E correlates with poor clinical outcome, whereas others have found no such association. It is estimated that BRAFV600E occurs in ~ 45–50% of PTC cases, but recent studies showed the more frequent presence ranging up 87% in some populations.

Objectives: To evaluate the frequency of the mutation BRAFV600E in patients diagnosed of PTC in HCC divided into two groups – low-risk cases defined as micro-PTC pT1a with one carcinoma focus <1 cm without nodal/distant metastases or extrathyroidal extension and the high-risk ones defined as pT3 at the moment of diagnosis.

Materials and methods: A 405 tissue samples were available of all 675 PTCs diagnosed as pT1aN0-x or pT3. 62 of the specimens were excluded due to insufficient sample of size to extract DNA or degradation of extracted DNA, leaving 343 tumour samples for BRAF analysis. Genotyping was performed on DNA extracted from the thyroid tumour tissue using direct capillary sequencing, and allele-specific amplification PCR was used to resolve equivocal results.

Results: The BRAFV600E mutation was detected in 126 of the 182 diagnosed as pT1aNo-x patients (69.2%) compared to 126 of the 161 diagnosed as pT3 (78.3%) with no significant difference (P=0.0747).

Conclusions: The presence of BRAFV600E in similar percentage of known low- and high-risk PTC cases may require verifying its usefulness as independent predictor of more aggressive and invasive papillary thyroid carcinoma.

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