Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas (2014)

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)[…]

Dramatic Response of BRAF V600E Mutant Papillary Craniopharyngioma to Targeted Therapy (2015)

We recently reported that BRAF V600E is the principal oncogenic driver of papillary craniopharyngioma, a highly morbid intracranial tumor commonly refractory to treatment. Here, we describe our treatment of a man age 39 years with multiply recurrent BRAF V600E craniopharyngioma using dabrafenib (150mg, orally twice daily) and trametinib (2mg, orally twice daily). After 35 days Read more about Dramatic Response of BRAF V600E Mutant Papillary Craniopharyngioma to Targeted Therapy (2015)[…]

Diagnosis and management of craniopharyngiomas in the era of genomics and targeted therapy (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)[…]

BRAF V600E mutations in papillary craniopharyngioma (2016)

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)[…]