Identification of a Novel Non-V600E BRAF Mutation in Papillary Thyroid Cancer.

Autor: Capezzone M; UOSD of Endocrinology, Misericordia Hospital, Grosseto 58100, Italy., Rossi M; UOS Molecular Pathology, Hospital Misericordia, Grosseto 58100, Italy., Macerola E; Department of Surgical, Medical and Molecular Pathology, University Hospital of Pisa, Pisa 56124, Italy., Cantara S; Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena 53100, Italy., Pepe F; Department of Public Health, University of Naples Federico II, Naples, Italy., Morabito EM; UOSD of Endocrinology, Misericordia Hospital, Grosseto 58100, Italy., Dalmazio G; UOSD of Endocrinology, Misericordia Hospital, Grosseto 58100, Italy., Bardi S; UOS Molecular Pathology, Hospital Misericordia, Grosseto 58100, Italy., Ognibene A; UOS Molecular Pathology, Hospital Misericordia, Grosseto 58100, Italy., Alessandri M; UOSD of Endocrinology, Misericordia Hospital, Grosseto 58100, Italy., Materazzi G; Division of Endocrine Surgery, Department of Surgical Pathology, University Hospital of Pisa, Pisa 56124, Italy., De Napoli L; Division of Endocrine Surgery, Department of Surgical Pathology, University Hospital of Pisa, Pisa 56124, Italy., Cirianni M; UOS Molecular Pathology, Hospital Misericordia, Grosseto 58100, Italy., Torregrossa L; Department of Surgical, Medical and Molecular Pathology, University Hospital of Pisa, Pisa 56124, Italy.
Jazyk: angličtina
Zdroj: Case reports in endocrinology [Case Rep Endocrinol] 2024 Mar 19; Vol. 2024, pp. 6621510. Date of Electronic Publication: 2024 Mar 19 (Print Publication: 2024).
DOI: 10.1155/2024/6621510
Abstrakt: Papillary thyroid cancer (PTC) is a common endocrine malignancy, and its incidence is reported to be constantly increasing. BRAF mutation is detected in approximately 44% of PTCs, and the most common BRAF mutation is thymine (T) to adenine (A) missense mutation in nucleotide 1796 (T1796A, V600E). Although BRAFV600E represents 95% of all BRAF mutations, uncommon BRAF mutations have been reported in thyroid carcinomas and represent an alternative mechanism of BRAF activation with unclear clinical significance. We report a novel non-V600E mutation (c.1799_1812delinsAT, p.V600_W604delinsD), identified preoperatively with next-generation sequencing (NGS) on the material obtained with fine-needle aspiration cytology (FNAC) performed on a thyroid nodule cytologically suspicious for malignancy in a 35-year-old male patient. The presence of this new variant of BRAF mutation was subsequently confirmed in the postoperative phase by direct Sanger sequencing. In conclusion, we report a new non-V600E variant previously undetected in papillary thyroid cancer. In addition, this case report shows that the NGS technique on cytological tissue allows to detect the presence of rare mutations, thus increasing the diagnostic specificity of molecular analysis.
Competing Interests: The authors declare that they have no conflicts of interest.
(Copyright © 2024 Marco Capezzone et al.)
Databáze: MEDLINE
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