Craniopharyngiomas are epithelial tumors that typically arise in the suprasellar region of the brain1. Patients experience substantial clinical sequelae both from extension of the tumors and from therapeutic interventions which damage the optic chiasm, the pituitary stalk, and the hypothalamic area2–4. Using whole exome sequencing we identified mutations in beta-catenin (CTNNB1) in nearly all adamantinomatous Read more about Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas (2014)[…]
Meningiomas are the most common primary nervous system tumor. The tumor suppressor NF2 is disrupted in approximately half of meningiomas1 but the complete spectrum of genetic changes remains undefined. We performed whole-genome or whole-exome sequencing on 17 meningiomas and focused sequencing on an additional 48 tumors to identify and validate somatic genetic alterations. Most meningiomas Read more about Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations (2013)[…]
Glioneuronal tumors constitute a histologically diverse group of primary central nervous system neoplasms that are typically slowgrowing and managed conservatively. Genetic alterations associated with glioneuronal tumors include BRAF mutations and oncogenic fusions. To further characterize this group of tumors, we collected a cohort of 26 glioneuronal tumors and performed indepth genomic analysis. We identified mutations Read more about Clinical and radiographic response following targeting of BCAN-NTRK1 fusion in glioneuronal tumor (2017)[…]
Melanoma is the third most common systemic cancer that leads to brain metastases. The annual incidence of melanoma has increased over time, with brain metastases developing in 40% to 50% of patients with advanced melanoma. Traditional management of melanoma-related brain metastases has focused on symptom control as a result of the significant neurologic morbidity associated Read more about Management of Brain Metastases in Patients With Melanoma (2016)[…]
Craniopharyngiomas are rare intracranial neoplasms that pose clinical challenges due to their location adjacent to vital structures. The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. These activating driver mutations are potential therapeutic targets, and the authors have recently reported a significant response to Read more about Diagnosis and management of craniopharyngiomas in the era of genomics and targeted therapy (2016)[…]
Meningiomas located in the skull base are surgically challenging. Recent genomic research has identified oncogenic SMOand AKT1 mutations in a small subset of meningiomas. METHODS The authors performed targeted sequencing in a large cohort of patients with anterior skull base meningiomas (n = 62) to better define the frequency of SMO and AKT1 mutations in Read more about Targeted sequencing of SMO and AKT1 in anterior skull base meningiomas (2016)[…]
The blood-brain barrier (BBB) is modified to a blood-tumor barrier (BTB) as a brain metastasis develops from breast or other cancers. We (i) quantified the permeability of experimental brain metastases, (ii) determined the composition of the BTB, and (iii) identified which elements of the BTB distinguished metastases of lower permeability from those with higher permeability.
Papillary craniopharyngioma (PCP) is an intracranial tumor that results in high levels of morbidity.We recently demonstrated that the vast majority of these tumors harbor the oncogenic BRAF V600E mutation. The pathologic diagnosis of PCP can now be confirmed using mutation specific immunohistochemistry and targeted genetic testing. Treatment with targeted agents is now also a possibility Read more about BRAF V600E mutations in papillary craniopharyngioma (2016)[…]
Meningiomas are the most common primary intracranial tumor in adults. Identification of SMO and AKT1 mutations in meningiomas has raised the possibility of targeted therapies for some patients. The frequency of such mutations in clinical cohorts and the presence of other actionable mutations in meningiomas are important to define.
Higher-grade meningiomas (HGMs; World Health Organization grades II and III) pose a clinical problem due to high recurrence rates and the absence of effective therapy. Preclinical development of novel therapeutics requires a disease model that recapitulates the genotype and phenotype of patient HGM. Oncolytic herpes simplex virus (oHSV) has shown efficacy and safety in cancers Read more about A new patient-derived orthotopic malignant meningioma model treated with oncolytic herpes simplex virus (2016)[…]