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DISEASE: Erdheim-Chester disease

Entry

H02425                      Disease

Name

Erdheim-Chester disease

Description

Erdheim-Chester disease (ECD) is a non-Langerhans-cell form of histiocytosis characterized by infiltration of tissues by foamy histiocytes. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. Recent studies have described that the etiology of ECD may be associated with the V600E BRAF mutation and an array of other activating mitogen-activated protein kinase (MAPK) pathway mutations, suggesting a critical role of this pathway in the pathogenesis and a possible clonal origin of the disease.

Category

Cancer

Brite

Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   2B31  Histiocytic or dendritic cell neoplasms
    H02425  Erdheim-Chester disease

Gene

BRAF (mutation) [HSA:673] [KO:K04365]
MAP2K1 (mutation) [HSA:5604] [KO:K04368]
ARAF (mutation) [HSA:369] [KO:K08845]
MAP2K2 (mutation) [HSA:5605] [KO:K04369]
KRAS (mutation) [HSA:3845] [KO:K07827]
NRAS (mutation) [HSA:4893] [KO:K07828]

Drug

Vemurafenib [DR:D09996] (BRAF mutation positive)

Other DBs

ICD-11:

MeSH:

Reference

Authors

Mazor RD, Manevich-Mazor M, Shoenfeld Y

Title

Erdheim-Chester Disease: a comprehensive review of the literature.

Journal

Orphanet J Rare Dis 8:137 (2013)
DOI:10.1186/1750-1172-8-137

Reference

Authors

Ozkaya N, Rosenblum MK, Durham BH, Pichardo JD, Abdel-Wahab O, Hameed MR, Busam KJ, Travis WD, Diamond EL, Dogan A

Title

The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort.

Journal

Mod Pathol 31:581-597 (2018)
DOI:10.1038/modpathol.2017.160

Reference

Authors

Campochiaro C, Tomelleri A, Cavalli G, Berti A, Dagna L

Title

Erdheim-Chester disease.

Journal

Eur J Intern Med 26:223-9 (2015)
DOI:10.1016/j.ejim.2015.03.004

Reference

Authors

Cives M, Simone V, Rizzo FM, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, Silvestris F, Dammacco F

Title

Erdheim-Chester disease: a systematic review.

Journal

Crit Rev Oncol Hematol 95:1-11 (2015)
DOI:10.1016/j.critrevonc.2015.02.004

LinkDB

» Japanese version

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