Erdheim-Chester disease: a rapidly evolving disease model.

doi:10.1038/s41375-020-0944-4

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Article

Erdheim-Chester disease: a rapidly evolving disease model.

Leukemia - 1 Nov 2020

Pegoraro Francesco, Papo Matthias, Maniscalco Valerio, Charlotte Frédéric, Haroche Julien, Vaglio Augusto

Abstract excerpt

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis with a putative neoplastic and inflammatory nature. The disease is driven by mutations in proto-oncogenes such as BRAF and MEK, while immune-mediated mechanisms contribute to disease development and progression. The clinical presentation of ECD is highly heterogeneous, ranging from smouldering unifocal forms to multiorgan life-threatening...

Topics

Biomarkers
Biopsy
Diagnostic Imaging
Disease Management
Disease Susceptibility
Erdheim-Chester Disease
Genetic Predisposition to Disease
Histiocytosis
Humans
Immunohistochemistry
Molecular Diagnostic Techniques
Mutation
Neoplasms
Organ Specificity

Source

Open in PubMed

Identifiers

PMID: 32591646
DOI: 10.1038/s41375-020-0944-4

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