2020 Volume 66 Issue 12 Pages 637-643
Erdheim-Chester Disease (ECD) is a rare histiocytic tumor. The disease is characterized by the symptom of bone pain of the whole body. We report a case of BRAF V600E-positive ECD related tumor of the maxilla. A 55-year-old woman was referred to our department because of pain and swelling in the maxilla. X-ray photo examination showed no clear abnormality; however, PET-CT and a bone scintigraphy showed an abnormal accumulation. Biopsy yielded a diagnosis of an ECD-related tumor. After diagnosis, we conducted additional PCR and immunostaining examinations, and a result of gene mutation in BRAF was obtained. In 2017, the FDA approved Vemurafenib (BRAF-inhibitor) for ECD patients. In the future, we will have more opportunities to treat ECD patients, so it is suggested that not only biopsy but also the genetic analysis and the immunostaining of BRAF V600E are important for adequate treatment.
