BRAFV600E hot spot mutation in thyroid carcinomas: first Moroccan experience from a single-institution retrospective study

Abstract

Background: The incidence of thyroid cancer is increasing worldwide at an alarming rate. BRAFV600E mutation is described to be associated with a worse prognostic of thyroid carcinomas, as well as extrathyroidal invasion and increased mortality. 
 Objective: To our knowledge, there are no reported studies neither from Morocco nor from other Maghreb countries re- garding the prevalence of BRAFV600E mutation in thyroid carcinomas. Here we aim to evaluate the frequency of BRAFV600E oncogene in Moroccan thyroid carcinomas. 
 Methods: In this Single-Institution retrospective study realized in the Anatomic Pathology and Histology Service in the Mil- itary Hospital of Instruction Mohammed V ‘HMIMV’ in Rabat, we report, using direct genomic sequencing, the assessment of BRAFV600E in 37 thyroid tumors. 
 Results: We detected BRAFV600E mutation exclusively in Papillary Thyroid Carcinomas ‘PTC’ with a prevalence of 28% (8 PTC out 29 PTC). Like international trends, Papillary Thyroid Carcinomas ’PTC’ is more frequent than Follicular Thyroid Carcinomas ‘FTC’ and Anaplastic Thyroid Carcinomas ‘ATC’ (29 PTC, 7 FTC and 1 ATC). 
 Conclusion: Our finding gives to the international community the first estimated incidence of this oncogene in Morocco showing that this prevalence falls within the range of international trends (30% to 90%) reported in distinct worldwide ge- ographic regions. 
 Keywords: Biomarker; BRAFV600E; Thyroid cancer; Morocco.

BRAFV600E mutation test on fine‐needle aspiration specimens of thyroid nodules: Clinical correlations for 4600 patients

“…The prevalence of BRAF V600E mutation in thyroid cancer varies in different geographic areas and ethnicities from 29% to 83%. 36,37 The prevalence of BRAF V600E mutation in PTC is 63.6%-83% among Korean and Chinese PTC patients, [38][39][40] which is much higher than that reported in Western countries (30-72%). 41,42 In our study, the frequency of BRAF V600E mutation in PTC was 76.1%.…”

TTN mutations predict a poor prognosis in patients with thyroid cancer

“…Furthermore, among all patients with THCA, the top five mutated genes were BRAF, NRAS, HRAS, TTN, and TG ( Figure 1 B). In recent years, there have been many reports on the study of BRAF and RAS gene mutations in THCA [ 35–37 ], but the role and mechanism of TTN gene mutations in THCA are not clear, and TTN gene mutations in THCA are rarely studied. Consequently, the present study focused on TTN gene mutations in THCA and thoroughly explored TTN mutation-related genes and potential mechanisms through bioinformatics methods.…”

BRCA1 Promoter Hypermethylation in Malignant Breast Tumors and in the Histologically Normal Adjacent Tissues to the Tumors: Exploring Its Potential as a Biomarker and Its Clinical Significance in a Translational Approach

“…The genomic DNA extraction was performed in 8 consecutive sections of 10 μm each, according to the manufacturer’s protocol ‘QIAamp DNA FFPE Tissue Kit (Qiagen)’, specially designed for purifying DNA from FFPE tissue sections [ 21 , 22 ]. The quality and concentration of the extracted genomic DNA were determined using the IMPLEN NanoPhotometer N60.…”