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Occurrence of BRAF mutations in a Polish cohort of PTC patients - preliminary results
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Abstract
Introduction: Genetic alterations involving the mitogen-activated protein kinase (MAPK) pathway are frequently demonstrated in papillary thyroid cancer (PTC). BRAF(V600E), the most frequent mutation in adult patients, is present in approximately 50% of PTC. Most clinical studies have demonstrated an association of BRAF(V600E) mutation with aggressive clinicopathological characteristics and high tumour recurrence, although the results are controversial. In this study we present the preliminary results of BRAF mutation frequence in a group of 88 Polish patients with papillary thyroid cancer (PTC) and relate it to the outcome all DTC patients operated in 2004 and 2005. BRAF (V600E) mutation was diagnosed in 38 (43%) of cases.
Material and methods: The presence of BRAF mutation was evaluated in 88 PTC tumours. DNA was isolated from tissue parafin blocks, and the mutation V600E was evaluated by sequence analysis with an AbiPrism 377 and 3130 xl genetic analyzer (Life Technologies). Statistical analysis was carried out with the use of SPSS 12 software. The c2 and Kaplan-Meyer survival analysis were performed.
Results: From all analyzed clinico-pathological factors, only older age positively correlated with BRAF mutation frequency (p = 0.0017). Lymph node/distant metastases, multifocality, and extra-thyroid extension did not correlate with BRAF status. One cancer related death and two reccurences were observed in the BRAF+ group while one relapse was diagnosed in the BRAF– group.
Conclusions: Although many studies document BRAF mutation as a prognostic factor in PTC our results underline that it is too early to consider it as a routine clinical predictive factor.
(Pol J Endocrinol 2010; 61 (5): 462-466)
Abstract
Introduction: Genetic alterations involving the mitogen-activated protein kinase (MAPK) pathway are frequently demonstrated in papillary thyroid cancer (PTC). BRAF(V600E), the most frequent mutation in adult patients, is present in approximately 50% of PTC. Most clinical studies have demonstrated an association of BRAF(V600E) mutation with aggressive clinicopathological characteristics and high tumour recurrence, although the results are controversial. In this study we present the preliminary results of BRAF mutation frequence in a group of 88 Polish patients with papillary thyroid cancer (PTC) and relate it to the outcome all DTC patients operated in 2004 and 2005. BRAF (V600E) mutation was diagnosed in 38 (43%) of cases.
Material and methods: The presence of BRAF mutation was evaluated in 88 PTC tumours. DNA was isolated from tissue parafin blocks, and the mutation V600E was evaluated by sequence analysis with an AbiPrism 377 and 3130 xl genetic analyzer (Life Technologies). Statistical analysis was carried out with the use of SPSS 12 software. The c2 and Kaplan-Meyer survival analysis were performed.
Results: From all analyzed clinico-pathological factors, only older age positively correlated with BRAF mutation frequency (p = 0.0017). Lymph node/distant metastases, multifocality, and extra-thyroid extension did not correlate with BRAF status. One cancer related death and two reccurences were observed in the BRAF+ group while one relapse was diagnosed in the BRAF– group.
Conclusions: Although many studies document BRAF mutation as a prognostic factor in PTC our results underline that it is too early to consider it as a routine clinical predictive factor.
(Pol J Endocrinol 2010; 61 (5): 462-466)
Keywords
papillary thyroid carcinoma; BRAF mutation; prognostic and predictive significance
About this articleTitle
Occurrence of BRAF mutations in a Polish cohort of PTC patients - preliminary results
Journal
Issue
Article type
Original paper
Pages
462-466
Published online
2010-11-04
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754
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919
Bibliographic record
Endokrynol Pol 2010;61(5):462-466.
Keywords
papillary thyroid carcinoma
BRAF mutation
prognostic and predictive significance
Authors
Agnieszka Czarniecka
Dagmara Rusinek
Ewa Stobiecka
Jolanta Krajewska
Monika Kowal
Aleksandra Kropińska
Jadwiga Żebracka
Małgorzata Kowalska
Jan Włoch
Adam Maciejewski
Daria Handkiewicz-Junak
