Dataset Information

Challenges of targeting BRAF V600E mutations in adult primary brain tumor patients: a report of two cases.

ABSTRACT: Aim: Therapeutic targeting of BRAF alterations in primary brain tumor patients has demonstrated clinical activity in case reports and early trials; however, there is limited high-level evidence of the efficacy. Patients & results: Targeting BRAF V600E mutations with concurrent dabrafenib and trametinib in anaplastic pleomorphic xanthoastrocytoma resulted in a transient radiographic and clinical response and no therapeutic benefit in a patient with an epithelioid glioblastoma. Conclusion: BRAF/MEK inhibition did not produce a durable treatment effect in glioblastoma or pleomorphic xanthoastrocytoma with BRAF V600E alterations. Heterogenicity of related cases in the literature makes an evaluation of efficacy BRAF targeting therapies in gliomas difficult and requires additional investigation.

SUBMITTER: Smith-Cohn M

PROVIDER: S-EPMC6912849 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Challenges of targeting BRAF V600E mutations in adult primary brain tumor patients: a report of two cases.

Smith-Cohn Matthew M Davidson Christian C Colman Howard H Cohen Adam L AL

CNS oncology 20191210 4

Aim: Therapeutic targeting of BRAF alterations in primary brain tumor patients has demonstrated clinical activity in case reports and early trials; however, there is limited high-level evidence of the efficacy. Patients & results: Targeting BRAF V600E mutations with concurrent dabrafenib and trametinib in anaplastic pleomorphic xanthoastrocytoma resulted in a transient radiographic and clinical response and no therapeutic benefit in a patient with an epithelioid gliob ...[more]

PMID: 31818130

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Project description:Background Ameloblastoma is a locally invasive and aggressive epithelial odontogenic neoplasm. The BRAF-V600E gene mutation is a prevalent genetic alteration found in this tumor and is considered to have a crucial role in its pathogenesis. The objective of this study is to develop and validate a radiomics-based machine learning method for the identification of BRAF-V600E gene mutations in ameloblastoma patients. Methods In this retrospective study, data from 103 patients diagnosed with ameloblastoma who underwent BRAF-V600E mutation testing were collected. Of these patients, 72 were included in the training cohort, while 31 were included in the validation cohort. To address class imbalance, synthetic minority over-sampling technique (SMOTE) is applied in our study. Radiomics features were extracted from preprocessed CT images, and the most relevant features, including both radiomics and clinical data, were selected for analysis. Machine learning methods were utilized to construct models. The performance of these models in distinguishing between patients with and without BRAF-V600E gene mutations was evaluated using the receiver operating characteristic (ROC) curve. Results When the analysis was based on radiomics signature, Random Forest performed better than the others, with the area under the ROC curve (AUC) of 0.87 (95%CI, 0.68-1.00). The performance of XGBoost model is slightly lower than that of Random Forest, and its AUC is 0.83 (95% CI, 0.60-1.00). The nomogram evident that among younger women, the affected region primarily lies within the mandible, and patients with larger tumor diameters exhibit a heightened risk. Additionally, patients with higher radiomics signature scores are more susceptible to the BRAF-V600E gene mutations. Conclusions Our study presents a comprehensive radiomics-based machine learning model using five different methods to accurately detect BRAF-V600E gene mutations in patients diagnosed with ameloblastoma. The Random Forest model’s high predictive performance, with AUC of 0.87, demonstrates its potential for facilitating a convenient and cost-effective way of identifying patients with the mutation without the need for invasive tumor sampling for molecular testing. This non-invasive approach has the potential to guide preoperative or postoperative drug treatment for affected individuals, thereby improving outcomes.

Dataset Information

Challenges of targeting BRAF V600E mutations in adult primary brain tumor patients: a report of two cases.

Publications

Challenges of targeting <i>BRAF</i> V600E mutations in adult primary brain tumor patients: a report of two cases.

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