Complete remission of critical neurohistiocytosis by vemurafenib

Neurology. Neuroimmunology and Neuroinflammation
Philipp EuskirchenAndreas Meisel

Abstract

To describe a patient with life-threatening brainstem neurohistiocytosis who recovered completely upon targeted treatment with the V600E mutation-specific BRAF inhibitor vemurafenib. We report clinical, histiologic, genetic, and sequential imaging findings, including fluorodeoxyglucose (FDG)-PET, over a follow-up period of 11 months. The patient presented with central hyperventilation, skeletal and perirenal Erdheim-Chester disease, and cutaneous Langerhans cell histiocytosis. A BRAF V600E hotspot mutation was detected in all afflicted tissues. Therapy with vemurafenib led to complete and stable clinical remission of CNS lesions and systemic disease that could be demonstrated by brain MRI and whole-body FDG-PET. Neurologic involvement in Erdheim-Chester disease usually confers a poor prognosis. In this patient, vemurafenib was well-tolerated and highly efficacious for severe brainstem involvement in Erdheim-Chester disease with overlapping Langerhans cell histiocytosis. This case illustrates the heterogeneous phenotypic spectrum of neurohistiocytosis and underscores the importance of genetic testing. This article provides Class IV evidence. This is a single observational study without controls.

Citations

Aug 20, 2015·Investigational New Drugs·Svetlana A ProtsenkoEvgeny N Imyanitov
Feb 26, 2016·British Journal of Haematology·Maurizio Aricò
Nov 19, 2015·Case Reports in Pathology·Shahzaib NabiRana Awdish
Nov 7, 2016·La Presse médicale·Mathilde de MenthonAbdellatif Tazi
Feb 23, 2018·Current Opinion in Pulmonary Medicine·Noah A Brown, Kojo S J Elenitoba-Johnson
Sep 26, 2017·Pediatric Blood & Cancer·E Ann YehUNKNOWN North American Consortium for Histiocytosis
Jan 1, 2019·Pediatric Hematology and Oncology·Olive EcksteinKenneth L McClain
Feb 6, 2018·American Journal of Hematology·Fleur Cohen-AubartJulien Haroche
Nov 12, 2016·Neurology. Neuroimmunology and Neuroinflammation·David HuntMatthew Collin
Mar 16, 2017·Neuropathology and Applied Neurobiology·F SahmC Giannini
Apr 1, 2020·Annals of Clinical and Translational Neurology·Louisa C BoydRahul H Dave
Apr 27, 2021·Lancet·Jean-François EmileJulien Haroche
May 17, 2021·Neuro-oncology·Fleur Cohen AubartEli L Diamond

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