It was not possible to detect BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma: A diagnostic accuracy study.

Autor: Martins-de-Barros AV; School of Dentistry, Post-Graduation Program in Dentistry, University of Pernambuco (UPE), Recife, Pernambuco, Brazil.; Centro Integrado de Anatomia Patológica (CIAP), Hospital Universitário Oswaldo Cruz (HUOC/UPE), Recife, Pernambuco, Brazil., da Costa Araújo FA; School of Dentistry, Post-Graduation Program in Dentistry, University of Pernambuco (UPE), Recife, Pernambuco, Brazil.; Department of Oral and Maxillofacial Surgery, Hospital Universitário Oswaldo Cruz (HUOC/UPE), Recife, Pernambuco, Brazil., Barros AMI; School of Dentistry, Post-Graduation Program in Dentistry, University of Pernambuco (UPE), Recife, Pernambuco, Brazil.; Centro Integrado de Anatomia Patológica (CIAP), Hospital Universitário Oswaldo Cruz (HUOC/UPE), Recife, Pernambuco, Brazil., Dos Santos EGF; Department of Oral and Maxillofacial Surgery, Hospital Universitário Oswaldo Cruz (HUOC/UPE), Recife, Pernambuco, Brazil., Barbosa Neto AG; Instituto de Ciências Biológicas (ICB/UPE), University of Pernambuco (UPE), Recife, Pernambuco, Brazil., da Silva HAM; Instituto de Ciências Biológicas (ICB/UPE), University of Pernambuco (UPE), Recife, Pernambuco, Brazil., de Lima ELS; Instituto de Ciências Biológicas (ICB/UPE), University of Pernambuco (UPE), Recife, Pernambuco, Brazil., Muniz MTC; Instituto de Ciências Biológicas (ICB/UPE), University of Pernambuco (UPE), Recife, Pernambuco, Brazil., Neves RFSN; Department of Oral and Maxillofacial Surgery, Hospital Getúlio Vargas (HGV/SES-PE), Recife, Pernambuco, Brazil., de Hollanda Valente RO; Department of Oral and Maxillofacial Surgery, Hospital Getúlio Vargas (HGV/SES-PE), Recife, Pernambuco, Brazil., de Oliveira E Silva ED; School of Dentistry, Post-Graduation Program in Dentistry, University of Pernambuco (UPE), Recife, Pernambuco, Brazil.; Department of Oral and Maxillofacial Surgery, Hospital Universitário Oswaldo Cruz (HUOC/UPE), Recife, Pernambuco, Brazil., de Vasconcelos Carvalho M; School of Dentistry, Post-Graduation Program in Dentistry, University of Pernambuco (UPE), Recife, Pernambuco, Brazil.; Centro Integrado de Anatomia Patológica (CIAP), Hospital Universitário Oswaldo Cruz (HUOC/UPE), Recife, Pernambuco, Brazil.
Jazyk: angličtina
Zdroj: Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology [J Oral Pathol Med] 2024 Apr; Vol. 53 (4), pp. 258-265. Date of Electronic Publication: 2024 Mar 17.
DOI: 10.1111/jop.13529
Abstrakt: Background: The objective of this study is to evaluate the diagnostic accuracy of plasma-based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell-free DNA from patients with ameloblastoma.
Methods: This is a prospective diagnostic accuracy study conducted based on the Standards for Reporting Diagnostic Accuracy recommendations. The index test was the plasma-based liquid biopsy, whereas the reference standard was the conventional tissue biopsy. The target condition was the detection of BRAF V600E mutation. The study population consisted of individuals with ameloblastoma recruited from three tertiary hospitals from Brazil. A negative control group composed of three individuals with confirmed wild-type BRAF lesions were included. The participants underwent plasma circulating cell-free DNA and tumor tissue DNA isolation, and both were submitted to using competitive allele-specific TaqMan™ real-time polymerase chain reaction technology mutation detection assays. Sensitivity and specificity measures and positive and negative predictive values were calculated.
Results: Twelve patients with conventional ameloblastoma were included. BRAF V600E mutation was detected in 11/12 (91.66%) ameloblastoma tissue samples. However, the mutation was not detected in any of the plasma-based liquid biopsy circulating cell-free DNA samples in both ameloblastomas and negative control group. The sensitivity and specificity of plasma-based liquid biopsy for the detection of the BRAF V600E mutation in circulating cell-free DNA was 0.0 and 1.0, respectively. The agreement between index test and reference standard results was 26.66%.
Conclusion: Plasma-based liquid biopsy does not seem to be an accurate method for the detection of the BRAF V600E mutation in circulating circulating cell-free DNA from patients with ameloblastoma, regardless of tumor size, anatomic location, recurrence status, and other clinicopathological features.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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