1. Follicular cell-derived thyroid carcinomas harboring novel genetic BRAF NON-V600E mutations: real-world data obtained using a multigene panel.
- Author
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von Ammon JL, Machado GJR, da Matta RRC, Telles AC, Carrijo F, Dos Santos BAF, Brandão JCD, da Silva TM, Hecht F, Colozza-Gama GA, Tezzei JH, Cerutti JM, and Ramos HE
- Subjects
- Humans, Female, Male, Adult, Middle Aged, Cross-Sectional Studies, Aged, High-Throughput Nucleotide Sequencing methods, Young Adult, DNA Mutational Analysis methods, Proto-Oncogene Proteins B-raf genetics, Thyroid Neoplasms genetics, Thyroid Neoplasms pathology, Mutation, Adenocarcinoma, Follicular genetics, Adenocarcinoma, Follicular pathology
- Abstract
Objectives: To assess the molecular profile of follicular cell-derived thyroid carcinomas (FCDTCs) and correlate the identified mutations with the clinical and pathological features of the affected patients., Materials and Methods: Cross-sectional study of tumor samples from 100 adult patients diagnosed with FCDTC between 2010 and 2019. The patients' clinical and pathological data were collected. Genomic DNA was extracted from formalin-fixed, paraffin-embedded (FFPE) tumors using the ReliaPrep FFPE gDNA Miniprep System. Genotyping of target genomic regions ( KRAS, NRAS, BRAF, EGFR , and PIK3CA ) was performed using the AmpliSeq panel, while sequencing was performed on the iSeq 100 platform., Results: The patients' mean age was 39 years. In all, 82% of the tumors were classic papillary thyroid carcinomas. Overall, 54 (54%) tumor samples yielded satisfactory results on next-generation sequencing (NGS), of which 31 harbored mutations. BRAF gene mutations were the most frequent, with the BRAF
V600E mutation present in 10 tumors. Seven tumors had BRAFNON-V600E mutations not previously described in FCDTCs (G464E, G464R, G466E, S467L, G469E, G596D, and the T599Ifs*10 deletion) but described in other types of cancer ( i.e. , skin/melanoma, lung, colorectal, and others). One tumor had a previously reported BRAFA598V mutation. EGFR gene mutations were found in 16 (29%) and KRAS or NRAS alterations in 8 (14%) of the 54 tumors analyzed., Conclusion: We described herein seven non-hotspot/novel variants in the BRAF gene, highlighting their potential role in expanding our understanding of FCDTC genetics., Competing Interests: Disclosure: no potential conflict of interest relevant to this article was reported.- Published
- 2024
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