{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T03:48:23Z","timestamp":1767844103880,"version":"3.49.0"},"reference-count":10,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,10,24]]},"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:p>Erdheim-Chester disease (ECD) is a rare histiocytosis that may affect the central nervous system (CNS). Infiltration by the disease occurs throughout the neuroaxis, usually involving the dentate nucleus and the pons, manifested as a pyramido-cerebellar syndrome. CNS involvement is an adverse prognostic factor which warrants prompt evaluation and treatment. <jats:italic>BRAF<\/jats:italic> mutation occurs in more than half of the cases and has become central in the therapeutic approach. There is rapidly growing evidence that BRAF inhibitors such as vemurafenib or dabrafenib are effective in treating CNS-spread disease. We present a patient with <jats:italic>BRAF<\/jats:italic>-V600E-mutant ECD with a classical pyramido-ataxic onset of disease who improved after prompt diagnosis with vemurafenib treatment as first-line therapy.<\/jats:p>","DOI":"10.1136\/bcr-2018-228280","type":"journal-article","created":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T05:06:31Z","timestamp":1574226391000},"page":"e228280","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":9,"title":["Vemurafenib as first-line therapy in <i>BRAF<\/i>-V600E-mutant Erdheim-Chester disease with CNS involvement"],"prefix":"10.1136","volume":"12","author":[{"given":"Gorka","family":"Fern\u00e1ndez-Eulate","sequence":"first","affiliation":[{"name":"Neurology Department, Hospital Universitario Donostia, San Sebastian, Spain"},{"name":"Maurice Wohl Neuroscience Institute, King's College London, London, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amaia","family":"Mu\u00f1oz-Lopetegi","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital Universitario Donostia, San Sebastian, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irune","family":"Ruiz","sequence":"additional","affiliation":[{"name":"Pathology Department, Hospital Universitario Donostia, San Sebastian, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Urtasun","sequence":"additional","affiliation":[{"name":"Neurology Department, Hospital Universitario Donostia, San Sebastian, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2019,11,19]]},"reference":[{"key":"2025082712090647000_12.11.e228280.1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-01-690636"},{"key":"2025082712090647000_12.11.e228280.2","doi-asserted-by":"crossref","first-page":"E114","DOI":"10.1002\/ajh.25055","article-title":"Phenotypes and survival in Erdheim-Chester disease: results from a 165-patient cohort","volume":"93","author":"Cohen-Aubart","year":"2018","journal-title":"Am J Hematol"},{"key":"2025082712090647000_12.11.e228280.3","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-03-561381"},{"key":"2025082712090647000_12.11.e228280.4","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A2707"},{"key":"2025082712090647000_12.11.e228280.5","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0160-9"},{"key":"2025082712090647000_12.11.e228280.6","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-05-430140"},{"key":"2025082712090647000_12.11.e228280.7","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-04-570937"},{"key":"2025082712090647000_12.11.e228280.8","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1038\/s41586-019-1012-y","article-title":"Efficacy of MEK inhibition in patients with histiocytic neoplasms","volume":"567","author":"Diamond","year":"2019","journal-title":"Nature"},{"key":"2025082712090647000_12.11.e228280.9","doi-asserted-by":"crossref","first-page":"e113","DOI":"10.1016\/S1470-2045(17)30031-1","article-title":"Histiocytoses: emerging neoplasia behind inflammation","volume":"18","author":"Haroche","year":"2017","journal-title":"Lancet Oncol"},{"key":"2025082712090647000_12.11.e228280.10","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-03-771873"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2018-228280","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:09:13Z","timestamp":1756321753000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2018-228280"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":10,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2019,11,19]]},"published-print":{"date-parts":[[2019,11]]}},"alternative-id":["10.1136\/bcr-2018-228280"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2018-228280","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11]]}}}