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Article

Dabrafenib and steroids for the treatment of Erdheim-Chester disease with extensive CNS involvement: a case report.

Personalized medicine - 1 Jan 2024

Yuen Carlen A, Bao Silin, Aung Mya Sandi, Shishodia Rhea, Kong Xiao-Tang

Abstract excerpt

Erdheim-Chester disease (ECD) is an exceedingly rare non-Langerhans cell CD68+ CD1a- S100- histiocytic multi-organ disease. Diagnosis of ECD is often delayed due to non-specific radiographic findings and heterogeneous lesional tissue. Increasingly, the role of genomic alterations is being recognized for both diagnosis and treatment of ECD. More than half of ECD patients harbor the BRAFV600E mutation. Evaluation...

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Source

Identifiers

PMID: 38275171
DOI: 10.2217/pme-2023-0137

Genes

ECD
BRAF
CD68

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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