ICEECE2012 Poster Presentations Thyroid cancer (108 abstracts)
BRAFV600E mutation is an indipendent predictive prognostic factor for persistent/recurrent disease in low risk differentiated thyroid cancer patients: a 5 year follow up study
D Viola , L Torregrossa , R Giannini , C Ugolini , A Biagini , C Romei , E Molinaro , L Agate , F Basolo , A Pinchera , P Vitti & R Elisei
University of Pisa, Pisa, Italy.
BRAFV600E mutation is the most frequent genetic alteration (29–83%) of papillary thyroid carcinoma (PTC). Many authors have demonstrated that the presence of the mutation is associated with a more advanced tumor stage at diagnosis and a worse outcome but anyone assessed if BRAFV600E mutation could be useful prognostic marker in low risk PTC patients (T1-T2N0M0, 7th TNM classification).
Aim of this study was to evaluate if the presence of BRAFV600E mutation in the primary tumor could be a predictor of persistent/recurrent disease in this subgroup of patients.
We retrospectively analyzed the clinicopathological features of 431 consecutive PTC patients treated with total/near total thyroidectomy and iodine-131 (when appropriate) and we selected 319 low risk PTC patients.
Genomic DNA was purified from paraffin-embedded tumoral tissue. A PCR SSCP analysis of exon 15 of BRAF was performed and direct genomic sequencing of SSCP positive cases was made.
The mutation was present in 106/319 patients (33.2%) and was significantly associated to the absence or invasion of tumoral capsule (P<0.0001), aggressive histological variant (P=0.0001) and multifocality (P=0.02). After 5 years of follow up, 24 (8.5%) patients had persistent disease and 295 (85.3%) were free of disease. BRAFV600E mutation was present in 89 patients (89/295=30.2%) free of disease and in 17 (17/24=70.8%) patients with persistent disease. At univariate analysis persistent disease was associated only with the presence of BRAFV600E mutation in the primary tumoral tissue (P<0.0001).
In conclusion, our results show the correlation of BRAFV600E mutation with aggressive features also in low risk PTC patients and indicate that the presence of BRAFV600E mutation is a bad prognostic factor for persistent/recurrent disease also in low risk PTC patients.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
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