• Hong T Lin, Kathryn A Wikenheiser-Brokamp, Gavin Udstuen, Blaise Jones, and Francis X McCormack.
• Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, OH. Electronic address: linht@mail.uc.edu.
• Chest. 2023 Feb 1; 163 (2): e53e56e53-e56.

AbstractMultiple trials have demonstrated the efficacy of therapies targeting the RAS/MAPK pathway in children with Langerhans cell histiocytosis (LCH), but less is known about the success of this strategy in adults or in LCH that is the result of mutations other than BRAF V600E. A 53-year-old woman who has never smoked presented to our clinic with multisystem, multifocal LCH that resulted from an uncommon BRAF N486_P490del mutation. Low dose, and even intermittent, MEK inhibitor (trametinib) therapy was associated with rapid improvement in almost all of her disease manifestations, including regression of masses in her groin and neck, reduction in seizure frequency and intensity, improvement in white matter lesions on MRI, diabetes insipidus, dyspnea, and cognitive and memory functions. We conclude that MEK inhibitor therapy was effective for BRAF mutation-associated adult multisystem LCH, including CNS manifestations, in this patient.Copyright © 2022 American College of Chest Physicians. Published by Elsevier Inc. All rights reserved.

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