Dabrafenib and Trametinib Treatment for Erdheim-Chester Disease With Brain Stem Involvement

Mayo Clinic Proceedings. Innovations, Quality & Outcomes
Ahmed Al BayatiJoseph D Rosenblatt

Abstract

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis characterized by infiltration of organs by CD68+ and CD1a- lipid-laden histiocytes, including the central nervous system in more than a third of patients. Molecular analysis of ECD samples has demonstrated the prevalence of BRAF V600E mutations as high as 54%. Recently, vemurafenib became the only Food and Drug Administration-approved treatment for patients with ECD who carry the BRAF V600E mutation. However, dabrafenib has been suggested to have greater brain distribution. We describe a 44-year-old female patient treated from August of 2015 through November 2017. She presented with a 2-year history of light-headedness, fatigue, and vertigo. She was moderately dysmetric, diffusely hyperreflexic, and dysarthric in the bilateral upper and lower extremities. Her gait was wide-based. She had dysarthria and nystagmus on horizontal gaze bilaterally. Magnetic resonance imaging showed an extensive area of increased T2/fluid-attenuated inversion recovery signal in the brain stem, enhancement in the pons and midbrain, and thickening of the pituitary stalk. Positron emission tomography/computed tomography (PET/CT) and whole-body technetium Tc99m bone scintig...Continue Reading

References

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Citations

Feb 13, 2019·Neuroradiology·Stefan WeidauerElke Hattingen
Aug 16, 2019·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·C LangR Dummer
Mar 4, 2020·Neurology. Neuroimmunology and Neuroinflammation·Macarena I de la FuenteAntonio Omuro
Feb 29, 2020·World Journal of Clinical Cases·Qin XiaMin-Zhi Mao
Jun 28, 2020·Leukemia·Francesco PegoraroAugusto Vaglio
Sep 14, 2020·Journal of Neuroimaging : Official Journal of the American Society of Neuroimaging·Neeta Garg, Efrat Saraf Lavi
Jun 4, 2021·Survey of Ophthalmology·Menelaos KanakisIlias Georgalas
Sep 22, 2020·Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society·Mehdi TavakoliCarlos E Mendoza-Santiesteban

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Methods Mentioned

BETA
biopsy

Clinical Trials Mentioned

NCT02281760

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