Erdheim-Chester disease among neuroinflammatory syndromes: the case for precision medicine

Erdheim-Chester disease (ECD) is a rare, non-Langerhans histiocytosis characterized by xanthogranulomatous infiltration typically affecting long bones, cardiovascular system, retroperitoneum, and lung, and that involves the CNS in 25%–50% of patients (table).1,2 Historically, establishing the diagnosis has been challenging, particularly in the absence of systemic abnormalities. Recent genomic studies have uncovered that approximately 50% of ECD tissue samples harbor a mutation in the BRAF gene,3 termed BRAFV600E, and that pointed to a neoplastic, rather than inflammatory, nature of the disease.4,5

Source: Neurology Neuroimmunology and Neuroinflammation - March 1, 2020 Category: Neurology Authors: de la Fuente, M. I., Rosenblum, M. K., Diamond, E. L., Tabar, V. S., Omuro, A. Tags: All Clinical Neurology, All Medical/Systemic disease, All Oncology, Primary brain tumor, Chemotherapy-tumor Clinical/Scientific Notes Source Type: research