Erdheim Chester disease (ECD): pathology
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Erdheim Chester disease (ECD): pathology. This is a non-Langerhans histiocytic inflammatory myeloid neoplasm. Fully referenced neurology checklist.
Pathology
- This is a non-Langerhans histiocytic inflammatory myeloid neoplasm
- It impairs the mitogen-activating protein kinase (MAPK) pathway in 80% of cases
- It causes a xanthogranulomatous infiltration
Genetic mutations
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Target organs
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References
- de la Fuente MI, Rosenblum MK, Diamond EL, Tabar VS, Omuro A. Erdheim-Chester disease among neuroinflammatory syndromes: the case for precision medicine. Neurol Neuroimmunol Neuroinflamm 2020; pii: e686.
- Bhatia A, Hatzoglou V, Ulaner G, et al. Neurologic and oncologic features of Erdheim-Chester disease: a 30-patient series. Neuro Oncol 2020; pii: noaa008 (Epub ahead of print).
- Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood 2020; 135:1311-1318.
- Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for the evaluation, diagnosis, and treatment in the molecular era. Blood 2020 (Epub ahead of print).
- Boyd LC, O'Brien KJ, Ozkaya N, et al. Neurological manifestations of Erdheim-Chester Disease. Ann Clin Transl Neurol 2020; 7:497-506.
