Clin Case Rep Int | Volume 4, Issue 1 | Case Report | Open Access

Durable Remission in a Patient with Erdheim-Chester Disease Carrying a BRAF V600E Mutation Under Dabrafenib Treatment

Ulrich Schneeberger^1*, Christoph Woernle², Kiriaki Kollia³, Katrin D Stumpe³, Elisabeth J Rushing⁴, Rene Bernays² and Christoph Renner¹

¹Department of Oncology, Onkozentrum Hirslanden, Switzerland ²Department of Neurosurgery, Onkozentrum Hirslanden, Switzerland ³Departement of Radiology, Onkozentrum Hirslanden, Switzerland ⁴Department of Neuropathology, University Hospital Zurich, Switzerland

^*Correspondance to: Ulrich Schneeberger 

Abstract

We report on a patient with Erdheim-Chester Disease (ECD) carrying a BRAF V600E mutation with a complete regression of a dural tumor as well as brainstem signal alterations following therapy with dabrafenib for more than 2 years. Initial neuroimaging studies including CT and MRI showed dural masses bifrontoparietal and a right-sided tentorial mass in the cerebellopontine angle. Biopsy revealed ECD with a BRAF V600E mutation. The patient underwent initial therapy with vemurafenib. However, treatment was terminated due to adverse effects. Accordingly, dabrafenib therapy at a dose of 75 mg twice daily was started, which was well tolerated. Following more than two years of dabrafenib treatment, the patient remains in complete remission regarding the CNS lesions with stable skeletal lesions.

Citation:

Schneeberger U, Woernle C, Kollia K, Stumpe KD, Rushing EJ, Bernays R, et al. Durable Remission in a Patient with Erdheim-Chester Disease Carrying a BRAF V600E Mutation Under Dabrafenib Treatment. Clin Case Rep Int. 2020; 4: 1152.