Aggressive Childhood-onset Papillary Craniopharyngioma Managed With Vemurafenib, a BRAF Inhibitor

Constance L Chik; Frank K H van Landeghem; Jacob C Easaw; Vivek Mehta

doi:10.1210/jendso/bvab043

Aggressive Childhood-onset Papillary Craniopharyngioma Managed With Vemurafenib, a BRAF Inhibitor

J Endocr Soc. 2021 Mar 16;5(5):bvab043. doi: 10.1210/jendso/bvab043. eCollection 2021 May 1.

Authors

Constance L Chik¹, Frank K H van Landeghem^{2

3}, Jacob C Easaw⁴, Vivek Mehta⁵

Affiliations

¹ Division of Endocrinology and Metabolism, Department of Medicine, University of Alberta, Edmonton, AB T6G 2G3, Canada.
² Department of Laboratory Medicine & Pathology, University of Alberta, Walter Mackenzie Health Sciences Centre, Edmonton, AB T6G 2B7, Canada.
³ Cancer Research Institute of Northern Alberta (CRINA), University of Alberta, Edmonton, AB T6G 2E1, Canada.
⁴ Cross Cancer Institute, University of Alberta, Edmonton, AB T6G 1Z2, Canada.
⁵ Division of Neurosurgery, Department of Surgery, University of Alberta, Walter Mackenzie Health Sciences Centre, Edmonton, AB T6G 2B7, Canada.

Abstract

The papillary subtype of craniopharyngioma (CP) rarely occurs in children and commonly presents as a suprasellar lesion. Patients with papillary CPs frequently harbor the BRAF-V600E mutation, and treatment with a BRAF inhibitor results in tumor shrinkage in several patients. Herein, we report a patient with childhood-onset papillary CP treated with vemurafenib for 40 months after multiple surgeries. At age 10, he presented with growth failure secondary to an intrasellar cystic lesion. He had 3 transsphenoidal surgeries before age 12 and a 4^th surgery 25 years later for massive tumor recurrence. Pathology showed a papillary CP with positive BRAF-V600E mutation. Rapid tumor regrowth 4 months after surgery led to treatment with vemurafenib that resulted in tumor reduction within 6 weeks. Gradual tumor regrowth occurred after a dose reduction of vemurafenib because of elevated liver enzymes. He had further surgeries and within 7 weeks after stopping vemurafenib, there was massive tumor recurrence. He resumed treatment with vemurafenib before radiation therapy and similar tumor shrinkage occurred within 16 days. In this patient with childhood-onset papillary CP that was refractory to multiple surgeries, the use of vemurafenib resulted in significant tumor shrinkage that allowed for the completion of radiation therapy and tumor control.

Keywords: BRAF mutation; papillary craniopharyngioma; vemurafenib.

Publication types

Case Reports