Open AccessErdheim-Chester disease
Author(s) -
Monika Brychtová,
Monika Vlachová,
Jana Gregorová,
Marta Krejčí,
Zdeněk Adam,
Sabina Ševčı́ková
Publication year - 2021
Publication title -
klinická onkologie
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.204
H-Index - 13
eISSN - 1802-5307
pISSN - 0862-495X
DOI - 10.48095/ccko2021434
Subject(s) - erdheim–chester disease , histiocyte , histiocytosis , pathology , proinflammatory cytokine , medicine , somatic cell , cancer research , neuroblastoma ras viral oncogene homolog , mapk/erk pathway , myeloid , immunology , biology , kras , disease , inflammation , signal transduction , gene , cancer , genetics , colorectal cancer
Erdheim-Chester disease is a rare inflammatory myeloid clonal disease which is classified into histiocytoses. It is characterized by excessive production and accumulation of foamy histiocytes and Touton giant cells in various tissues and organs. Foamy histiocytes and Touton giant cells produce proinflammatory cytokines and chemokines and contain somatic mutations in genes activating the MAPK/ERK signaling pathway, but also in genes activating the PI3K/AKT signaling pathway. BRAFV600E is the most common somatic mutation. Furthermore, somatic mutations in the MAP2K1, KRAS, NRAS, ARAF or PIK3CA genes are abundant. Erdheim-Chester dis-ease is a multisystemic disease in which any organ can be affected, especially the long bones of the lower extremities, but also the cardiovascular system, retroperitoneum, endocrine system, central nervous system, lungs, skin or orbit. The dia-gnosis is difficult because of the various manifestations of this disease. The disease occurs mainly in adults and is more common in men than in women. Targeted treatment by kinase inhibitors, interferon a, cytokine blockers or cladribine is used for the treatment.