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Article

How I diagnose Erdheim-Chester disease.

American journal of clinical pathology - 4 Aug 2026

Ravindran Aishwarya, Rech Karen L

Abstract excerpt

OBJECTIVES: Erdheim-Chester disease (ECD) is one of 3 major types of histiocytic neoplasms, along with Rosai-Dorfman disease and Langerhans cell histiocytosis. It was first recognized as a neoplasm in the 2016 World Health Organization Classification of Haematolymphoid Tumours. About 80% to 90% of cases harbor MAPK pathway mutations. METHODS: We discuss the diagnosis of ECD using 3 illustrative cases, consider...

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Identifiers

PMID: 42624824
DOI: 10.1093/ajcp/aqag094

Genes

ECD
BRAF
CD163

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 15 Oct 2026.

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