O. Trabelsi Grati 1, I. Achour 2, S. Charfi 3, A. Chakroun 2, J. Jdidi 5, S. Hugonin 4, R. Lacave 4,
I. Charfeddine 2, T. Rebai 1, T. Sellami Boudawara 3, N. Bouayed Abdelmoula 1.
1.Laboratory of Histology, Medicine school of Sfax. Tunisia
2.Department of Otorhinolaryngology. Habib Bourguiba Teaching Hospital.
3.Department of pathology. Habib Bourguiba Teaching Hospital, Sfax Tunisia
4.Laboratory of Tumoral biology. Tenon Hospital, Paris. France
5.Department of Epidemiology. Hedi Chaker Teaching Hospital, Sfax. Tunisia

Abstract

Background: The BRAFV600E mutation is a common genetic alteration in papillary thyroid carcinoma (PTC). This mutation has been widely reported, more recentely, in north African population.
Our objectives were to determine the prevalence of BRAF V600E in a Tunisian population with differentiated thyroid carcinoma and to investigate its association with aggressive clinicopathologic characteristics.
Methods: DNA was extracted from paraffin-embedded thyroid tumor specimens taken from 13 patients with PTC and 7 patients with follicular carcinoma. BRAF V600E mutation was determined using multiplex real-time polymerase chain reaction (PCR) assay based on the TaqMan MGB probe system. The fluorescence absorbance of probes was calculated separately.
Results: The BRAF mutation was present in 7 of 13 PTC (53,8%) but was not detected in follicular carcinoma. The age distribution, tumor size, multifocality, lymph node metastasis and staging did not differ significantly between patients with and without the BRAF(V600E) mutation.
Conclusion: The BRAF V600E mutation was detected in more than half Tunisian patients with PTC which in accordance with the literature. However, its presence was not significantly associated with poor prognostic factors. Our findings need confirmation by large Tunisian and African series.
Keywords: Tunisia, prognosis, genetic markers, DNA mutational analysis, carcinoma, papillary.

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