Newly diagnosed papillary craniopharyngioma with BRAF V600E mutation treated with single-agent selective BRAF inhibitor dabrafenib: a case report

Abstract

We report a case of a patient with newly diagnosed, locally extensive and cystic, suprasellar papillary craniopharyngioma successfully treated with single-agent Dabrafenib. The patient was symptomatic with gait imbalance with falls, lethargic episodes, fatigue and incontinence. Diagnostic imaging demonstrated a cystic suprasellar tumor extending into the third ventricle causing obstructive hydrocephalus. The tumor was partially debulked, and bilateral shunts were placed. NGS sequencing demonstrated BRAF V600E mutation, and the patient was prescribed dual agent Dabrafenib and Trametinib. However, due to insurance denial for Trametinib, he only received single-agent Dabrafenib (150mg BID). The treatment resulted in a major response (over two years), including reduction of the tumor cyst, and improvement of the clinical symptoms. No adverse events have been reported. The patient continues on Dabrafenib (150 mg BID) with a steady reduction in tumor size, and improvement in cognitive function leading to independent living.

Papillary craniopharyngioma in a patient following resection of nonfunctioning pituitary adenoma: illustrative case

“…BRAF mutations have been reported in patients with CPs, with favorable responses to vemurafenib, dabrafenib, and MEK inhibitors. [32][33][34][35][36][37] Of course, without a new biopsy showing a CP, there would have been no basis for using any of these agents in our patient.…”

Revived Attention for Adult Craniopharyngioma

“…Reports indicate good results concerning disease control and survival by using B-RAF antibodies in treating these entities [53]. The same holds true for initial short term data concerning papillary CP [54][55][56]. Long term reports are still outstanding and will have to be judged concerning a stronger role of BRAF inhibitors in the primary postsurgical treatment of papillary craniopharyngioma in the future.…”

Successful Use of BRAF/MEK Inhibitors as a Neoadjuvant Approach in the Definitive Treatment of Papillary Craniopharyngioma

“…Although there are no clear recommendations regarding the test with the best sensitivity and specificity to detect somatic BRAF mutations in papillary craniopharyngioma, we recommend an approach using DNA-based testing (such as PCR or NGS) and antibody-based testing (immunohistochemistry to detect mutant BRAF protein), given the increased sensitivity and specificity of combined testing. 7,13 Several case reports have demonstrated the robust clinical response of BRAF V600E -positive papillary craniopharyngioma when treated with a single-agent BRAF inhibitor [14][15][16] or with dual-targeted therapies using BRAF/MEK inhibitors. [17][18][19][20] The rationale of using combined BRAF/MEK inhibitors is based on the additive effect of MEK inhibitors, which can augment blockade of the downstream pathway of mitogen-activated protein kinase.…”