Erdheim Chester disease (ECD): pathology

Evidence-based neurology checklist on erdheim chester disease (ecd): pathology: 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…

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

Target organs

References

  1. 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.
  2. 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).
  3. Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood 2020; 135:1311-1318.
  4. 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).
  5. Boyd LC, O'Brien KJ, Ozkaya N, et al. Neurological manifestations of Erdheim-Chester Disease. Ann Clin Transl Neurol 2020; 7:497-506. 

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