Case report: BRAF-inhibitor therapy in BRAF-mutated primary CNS tumours including one case of BRAF-mutated Rosai-Dorfman disease.

Abstract

BRAF V600E oncogene mutations have been reported in multiple central nervous system (CNS) tumor types, and emerging evidence supports the use of targeted therapy in BRAF-mutated gliomas. BRAF oncogene mutations have been recently identified in Rosai-Dorfman disease (RDD)-a rare non-Langerhans cell histiocytosis. This series describes three patients from two neurosurgical centers in Ireland with BRAF V600E-mutated CNS tumors. The study participants include a 19-year-old male patient with ganglioglioma with anaplastic features, a 21-year-old male patient with CNS involvement of RDD, and a 28-year-old female patient with ganglioglioma with anaplastic features. Two patients received radiation with concurrent temozolomide before BRAF-targeted therapy. This case series describes clinical and radiological responses to BRAF-targeted therapy in BRAF V600E-mutated gliomas across multiple tumor grades and is only the second published report of response to targeted therapy in BRAF-mutated RDD. The durability of disease control with BRAF-targeted therapy was generally superior to that achieved with chemoradiation; one patient has experienced ongoing disease control for 5 years. The reported case of treatment response in BRAF-mutated RDD supports the strategy of genotyping and utilization of targeted therapy in this rare disease. The optimal sequencing of BRAF-targeted therapy in BRAF-mutated gliomas/glioneuronal tumors remains unclear, and further prospective studies are required to guide the use of genome-matched therapy in this patient population.

• Authors: Christopher Cronin, Ronan McLaughlin, Louise Lane, Francesca M Brett, Michael Jansen, Niamh Bermingham, Gerald Wyse, Liam Grogan, Patrick G Morris, Seamus O'Reilly
• Journal: Frontiers in medicine (Front Med (Lausanne)) Vol. 9 Pg. 1070828 ( 2022) ISSN: 2296-858X [Print] Switzerland
• PMID: 36619621 (Publication Type: Case Reports)
• Copyright: Copyright © 2022 Cronin, McLaughlin, Lane, Brett, Jansen, Bermingham, Wyse, Grogan, Morris and O’Reilly.