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- W2809712251 abstract "Objective: To reveal an emerging targeted therapy for cerebellar histiocytosis. Background: Erdheim chester disease (ECD) is a non-Langerhans cell histiocytosis characterized by involvement of the skeletal system, central nervous system(CNS), skin, retroperitoneum, lungs and heart. BRAF inhibitors emerge as a promising therapy for ECD of the CNS with BRAF mutation. Design/Methods: Case report Results: A 58 year old man presented complaining of balance problems, falls and visual disturbance consistent with oscillopsia for 2 years. He unintentionally lost 80 pounds over a year. On exam, he had hypermetric saccades in both horizontal and vertical directions. His speech was ataxic and he had dysmetria on finger nose test bilaterally. He had a wide based ataxic gait. MRI brain revealed T2 hyperintense lesions symmetrically involving the middle, inferior cerebellar peduncles and dentate nuclei without contrast enhancement. His abdominal CT scan revealed diffuse strand like soft tissue densities surrounding the kidneys bilaterally (“hairy kidneys”) and involving the retroperitoneal fat with confluent nodular masses. A tissue biopsy from retroperitoneum revealed foamy histiocytes staining positive for CD68 and negative for CD1a and S100. Genetic testing of the excised tissue revealed a mutant BRAF gene (V600E, GTC>GAG) further confirming the diagnosis of ECD. He was started on dabrafenib given his genetic mutation and prior reports of successful treatment of ECD harboring the BRAF mutation with targeted therapies. Although prognosis prior to targeted therapy era was dismal especially when there is CNS involvement, with high mortality, our patient dramatically responded to therapy with almost complete resolution of his cerebellar findings on MRI and remarkable regression of his retroperitoneal findings in less than 2 years on therapy. Clinically, his oscillopsia has resolved and his ataxia slightly improved. Conclusions: Dabrafenib is a promising therapy that should be considered in ECD of CNS with BRAF mutation. Disclosure: Dr. El Kouzi has nothing to disclose. Dr. Choucair has nothing to disclose. Dr. Rauschkolb has nothing to disclose. Dr. Gilchrist has nothing to disclose." @default.
- W2809712251 created "2018-07-10" @default.
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- W2809712251 date "2017-04-18" @default.
- W2809712251 modified "2023-09-24" @default.
- W2809712251 title "Dabrafenib in Erdheim-Chester Disease of the cerebellum induces remission. (P3.150)" @default.
- W2809712251 hasPublicationYear "2017" @default.
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