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10.1186/s13104-015-1135-7

http://scihub22266oqcxt.onion/10.1186/s13104-015-1135-7
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C4450489!4450489!25926131
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suck abstract from ncbi


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pmid25926131      BMC+Res+Notes 2015 ; 8 (ä): ä
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  • Excellent response of intramedullary Erdheim-Chester disease to vemurafenib: a case report #MMPMID25926131
  • Tzoulis C; Schwarzlmüller T; Gjerde IO; Søfteland E; Neckelmann G; Biermann M; Haroche J; Straume O; Vintermyr OK
  • BMC Res Notes 2015[]; 8 (ä): ä PMID25926131show ga
  • 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.
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