The Prevalence and Prognostic Implications of BRAF K601E Mutations in Thyroid Neoplasms: A Systematic Review and Meta-Analysis.

Autor: Webster A; School of Medicine, Tulane University, New Orleans, Louisiana, USA., Elshazli RM; Department of Surgery, School of Medicine, Tulane University, New Orleans, Louisiana, USA.; Department of Biological Sciences, Faculty of Science, New Mansoura University, New Mansoura City, Egypt., Pinion D; School of Medicine, Tulane University, New Orleans, Louisiana, USA., Clark RDE; School of Medicine, Tulane University, New Orleans, Louisiana, USA., Kelly G; School of Medicine, Tulane University, New Orleans, Louisiana, USA., Issa PP; School of Medicine, Tulane University, New Orleans, Louisiana, USA., Hussein MH; Department of Surgery, School of Medicine, Tulane University, New Orleans, Louisiana, USA.; Department of Family Medicine, Ochsner Clinic Foundation, New Orleans, Louisiana, USA., Fawzy MS; Department of Biochemistry, Faculty of Medicine, Northern Border University, Arar, Saudi Arabia., Toraih EA; Department of Surgery, School of Medicine, Tulane University, New Orleans, Louisiana, USA.; Genetics Unit, Department of Histology and Cell Biology, Faculty of Medicine, Suez Canal University, Ismailia, Egypt., Kandil E; Department of Surgery, School of Medicine, Tulane University, New Orleans, Louisiana, USA.
Jazyk: angličtina
Zdroj: Head & neck [Head Neck] 2024 Dec; Vol. 46 (12), pp. 3133-3145. Date of Electronic Publication: 2024 Oct 14.
DOI: 10.1002/hed.27950
Abstrakt: Background: Activating mutations in the BRAF oncogene occur in 45% of papillary thyroid carcinomas (PTCs). Though less studied, K601E may identify a clinically distinct subset of thyroid neoplasms.
Methods: A bioinformatics assessment was conducted using the COSMIC database and in silico data analysis. A systematic search was conducted through August 2024 to identify studies reporting BRAF mutation in thyroid neoplasms. Pooled prevalence, histopathological subtype distribution, extrathyroidal extension, lymph node metastasis, recurrence, and survival were extracted/analyzed from 32 studies (13 191 patients).
Results: In the COSMIC database, BRAF K601E was found in various tissue types but mainly in the thyroid. In silico data analysis revealed a structural and functional basis for differences between K601E and V600E. Upon systematic review, the BRAF K601E mutation was identified in 2.8% of PTCs compared to 22% with V600E. The stratified analysis revealed geographical differences, with higher rates in Italy (5.23%) and the United States of America (3.31%). The K601E mutant was enriched for follicular-patterned variants like NIFTP (11.2% of cases). Meta-analysis demonstrated significantly reduced extrathyroidal extension for K601E versus V600E mutants (RR = 0.22, 95% CI = 0.10-0.50, p = 0.0003).
Conclusion: K601E-mutated neoplasms could be a unique clinicopathological entity associated with low-risk histology and reduced extrathyroidal extension, consistent with a more indolent course than V600E mutants. Although detecting K601E may potentially guide conservative management, further prospective studies are needed.
(© 2024 The Author(s). Head & Neck published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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