1. Comparison of Immunohistochemistry and DNA Sequencing for BRAF V600E Mutation Detection in Mandibular Ameloblastomas
- Author
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Juliana Lucena Schussel, Dmitry José de Santana Sarmento, Barbara M R da Silva Marcelino, Göran Kjeller, André Luiz Ferreira Costa, Alan Motta do Canto, Guilherme Klein Parise, Bengt Hasséus, Laurindo Moacir Sassi, and Paulo Henrique Braz-Silva
- Subjects
Adult ,Male ,Proto-Oncogene Proteins B-raf ,0301 basic medicine ,Pathology ,medicine.medical_specialty ,Histology ,Adolescent ,DNA Mutational Analysis ,Mutation, Missense ,Pathology and Forensic Medicine ,law.invention ,Ameloblastoma ,Surgical pathology ,03 medical and health sciences ,0302 clinical medicine ,law ,Humans ,Medicine ,Polymerase chain reaction ,business.industry ,Gold standard (test) ,Middle Aged ,medicine.disease ,Immunohistochemistry ,Dentigerous cyst ,Mandibular Neoplasms ,Medical Laboratory Technology ,030104 developmental biology ,Amino Acid Substitution ,030220 oncology & carcinogenesis ,Mutation (genetic algorithm) ,Female ,business ,V600E - Abstract
This study aimed to investigate the presence of BRAF V600E mutation in mandibular ameloblastoma by comparing the results of molecular detection and immunohistochemical analysis. A 128 cases of mandibular ameloblastoma and 30 cases of dentigerous cyst (control group) were selected for analysis. Detection of BRAF V600E mutation was performed with immunohistochemistry (IHC) and polymerase chain reaction techniques. Clinico-pathologic data were collected in order to investigate possible associations with the mutation. Of the 128 cases submitted to IHC, 81.2% (108 cases) showed positivity for anti-BRAF V600E antibody, whereas 24 were negative (18.8%). Molecular analysis of the BRAF V600E mutation by polymerase chain reaction was possible in 116 cases due to DNA quality. Of these cases, 96 were positive (82.8%) and 20 negative (17.2%). All cases of dentigerous cyst were negative for BRAF V600E mutation in both techniques. Considering the sequencing as a gold standard method, the receiver operating characteristics curve analysis showed sensitivity of 0.99 and specificity of 1 (area under the curve=0.995, standard error=0.006; P
- Published
- 2021
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