Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report

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• 作者：Charalampos Tzoulis ; Thomas Schwarzlmüller ; Ivar Otto Gjerde…
• 关键词：Erdheim Chester ; Vemurafenib ; BRAF ; Treatment ; Tumor ; Histiocytosis ; Spinal cord
• 刊名：BMC Research Notes
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：8
• 期：1
• 全文大小：2,797 KB
• 刊物主题：Biomedicine general; Medicine/Public Health, general; Life Sciences, general;
• 出版者：BioMed Central
• ISSN：1756-0500

文摘

Background Erdheim-Chester disease is a rare histiocytosis characterized by multi-systemic organ involvement. Immune-modulating agents such as interferon-alpha have limited success and the disorder is progressive and causes high morbidity and mortality. Treatment with the BRAF-inhibitor vemurafenib has recently produced substantial improvement in three patients with Erdheim-Chester disease expressing the p. V600E BRAF mutation. The disorder commonly affects the central nervous system and it is not yet known whether vemurafenib can reverse intra-axial infiltration and the resulting neurological impairment.