Academic Journal
Comparison of diagnostic methods for detection of BRAFV600E mutation in ameloblastoma
| العنوان: | Comparison of diagnostic methods for detection of BRAFV600E mutation in ameloblastoma |
|---|---|
| المؤلفون: | Anbinselvam, Arularasan, Akinshipo, Abdul‐Warith O., Adisa, Akinyele O., Effiom, Olajumoke A., Zhu, Xinhe, Adebiyi, Kehinde E., Arotiba, Godwin T., Akintoye, Sunday O. |
| المساهمون: | National Institutes of Health |
| المصدر: | Journal of Oral Pathology & Medicine ; volume 53, issue 1, page 79-87 ; ISSN 0904-2512 1600-0714 |
| بيانات النشر: | Wiley |
| سنة النشر: | 2024 |
| المجموعة: | Wiley Online Library (Open Access Articles via Crossref) |
| الوصف: | Background Ameloblastoma is an aggressively growing, highly recurrent odontogenic jaw tumor. Its association with BRAFV600E mutation is an indication for BRAFV00E‐inhibitor therapy The study objective was to identify a sensitive low‐cost test for BRAFV600E‐positive ameloblastoma. We hypothesized that immunohistochemical staining of formalin‐fixed paraffin‐embedded tissues for BRAFV600E mutation is a low‐cost surrogate for BRAFV600E gene sequencing when laboratory resources are inadequate for molecular testing. Methods Tissues from 40 ameloblastoma samples were retrieved from either formalin‐fixed paraffin‐embedded blocks, RNAlater™ stabilization solution or samples inadvertently pre‐fixed in formalin before transfer to RNAlater™. BRAFV600E mutation was assessed by Direct Sanger sequencing, Amplification Refractory Mutation System‐PCR and immunohistochemistry (IHC). Results BRAFV600E mutation was detected by IHC, Amplification Refractory Mutation System‐PCR and Direct Sanger sequencing in 93.33%, 52.5% and 30% of samples respectively. Considering Direct Sanger sequencing as standard BRAFV600E detection method, there was significant difference between the three detection methods (𝜒 2 (2) = 31.34, p < 0.0001). Sensitivity and specificity of IHC were 0.8 (95% CI: 0.64–0.90) and 0.9 (95% CI: 0.75–0.99) respectively, while positive predictive value and negative predictive value (NPV) were 0.9 and 0.8 (Fischer's test, p < 0.0001) respectively. Sensitivity and specificity of Amplification Refractory Mutation System‐PCR detection method were 0.7 (95% CI: 0.53–0.80) and 0.9 (95% CI = 0.67–0.98) respectively, while PPV and NPV were 0.9 and 0.6 respectively (Fischer's test, p < 0.0001). Conclusion Low‐cost and less vulnerability of IHC to tissue quality make it a viable surrogate test for BRAFV600E detection in ameloblastoma. Sequential dual IHC and molecular testing for BRAFV600E will reduce equivocal results that could exclude some patients from BRAFV600E‐inhibitor therapies. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1111/jop.13506 |
| الاتاحة: | http://dx.doi.org/10.1111/jop.13506 https://onlinelibrary.wiley.com/doi/pdf/10.1111/jop.13506 |
| Rights: | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| رقم الانضمام: | edsbas.E15D1146 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/jop.13506 |
|---|