dc.contributor.author | Tzoulis, Charalampos | en_US |
dc.contributor.author | Schwarzlmüller, Thomas | en_US |
dc.contributor.author | Søfteland, Eirik | en_US |
dc.contributor.author | Neckelmann, Gesche | en_US |
dc.contributor.author | Biermann, Martin | en_US |
dc.contributor.author | Haroche, Julien | en_US |
dc.contributor.author | Straume, Oddbjørn | en_US |
dc.contributor.author | Gjerde, Ivar Otto | en_US |
dc.contributor.author | Vintermyr, Olav Karsten | en_US |
dc.date.accessioned | 2016-10-05T08:28:54Z | |
dc.date.available | 2016-10-05T08:28:54Z | |
dc.date.issued | 2015-04-30 | |
dc.Published | BMC Research Notes 2015, 8(1):171 | eng |
dc.identifier.uri | https://hdl.handle.net/1956/12922 | |
dc.description.abstract | 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. Case presentation: In this work, we report for the first time an excellent clinical response to vemurafenib in a Norwegian patient with debilitating progressive spastic paraparesis due to intra-axial infiltration of the thoracic spinal cord. The patient had been unresponsive to interferon-alpha. Low dose vemurafenib (720 mg daily) for a period of three months resulted in significant tumor shrinkage by >60% and regression of contrast enhancement and fluorodeoxyglucose uptake on positron-emission tomography. The patient’s spastic paraparesis and gait function improved dramatically. She currently walks unaided and reports a substantially improved quality of life. Conclusion: Our findings show that vemurafenib therapy, even at low doses, can be effective for the treatment of intra-axial central nervous system involvement in BRAF-positive Erdheim-Chester disease. | en_US |
dc.language.iso | eng | eng |
dc.publisher | BioMed Central | eng |
dc.rights | Attribution CC BY | eng |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | eng |
dc.subject | Erdheim Chester | eng |
dc.subject | Vemurafenib | eng |
dc.subject | BRAF | eng |
dc.subject | Treatment | eng |
dc.subject | Tumor | eng |
dc.subject | Histiocytosis | eng |
dc.subject | Spinal cord | eng |
dc.title | Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report | en_US |
dc.type | Peer reviewed | |
dc.type | Journal article | |
dc.date.updated | 2016-02-25T14:34:21Z | |
dc.description.version | publishedVersion | en_US |
dc.rights.holder | Tzoulis et al.; licensee BioMed Central. | |
dc.identifier.doi | https://doi.org/10.1186/s13104-015-1135-7 | |
dc.identifier.cristin | 1345212 | |