TY - JOUR
T1 - Updates on Erdheim-Chester disease
AU - Elbaz Younes, Ismail
AU - Ellis, Austin
AU - Zhang, Xiaohui
N1 - Publisher Copyright:
© 2022 The Authors
PY - 2022/6
Y1 - 2022/6
N2 - Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis characterized by multisystemic proliferation of histiocytes in a background of fibrosis and inflammation. Patients with ECD have diverse clinical manifestations with multiple organ or system involvement, and pathognomonic radiographical findings such as symmetric cortical osteosclerosis of the diaphysis and metaphysis of the long bones in the lower extremities, “coated aorta”, and “hairy kidney”. Histopathologically, lesions are composed of epithelioid/foamy histiocytes with fibrosis and admixed inflammatory cells. Most cases of ECD harbor an activating mutation in the MAPK pathway, most commonly BRAF V600E mutation. Prognosis has improved with the use of multiple treatment modalities and the advent of novel targeted therapies.
AB - Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis characterized by multisystemic proliferation of histiocytes in a background of fibrosis and inflammation. Patients with ECD have diverse clinical manifestations with multiple organ or system involvement, and pathognomonic radiographical findings such as symmetric cortical osteosclerosis of the diaphysis and metaphysis of the long bones in the lower extremities, “coated aorta”, and “hairy kidney”. Histopathologically, lesions are composed of epithelioid/foamy histiocytes with fibrosis and admixed inflammatory cells. Most cases of ECD harbor an activating mutation in the MAPK pathway, most commonly BRAF V600E mutation. Prognosis has improved with the use of multiple treatment modalities and the advent of novel targeted therapies.
KW - Erdheim-Chester disease
KW - Histiocytic/dendritic neoplasm
KW - Histiocytosis
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U2 - 10.1016/j.hpr.2022.300636
DO - 10.1016/j.hpr.2022.300636
M3 - Review article
AN - SCOPUS:85127970371
SN - 2772-736X
VL - 28
JO - Human Pathology Reports
JF - Human Pathology Reports
M1 - 300636
ER -