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Article

Cluster analysis reveals the clinical spectrum of Erdheim-Chester disease.

Leukemia - 1 Aug 2025

Tesi Michelangelo, Pegoraro Francesco, Peyronel Francesco, Emile Jean-François, Catamerò Francesco, Koster Matthew J, Goyal Gaurav, Collin Matthew, Milne Paul, Boussouar Samia, Cohen-Aubart Fleur, Papo Matthias, Amoura Zahir, Estrada-Veras Juvianee I, O'Brien Kevin, Razanamahery Jerome, Goulabchand Radjiv, Idbaih Ahmed, de Menthon Mathilde, Gensous Noemie, Aouba Achille, Ledoult Emmanuel, Le Scornet Tanguy, Néel Antoine, Go Ronald S, Mazor Roei D, Campochiaro Corrado, Dagna Lorenzo, Diamond Eli L, Vaglio Augusto, Haroche Julien

Abstract excerpt

Erdheim-Chester disease (ECD) is a clonal-inflammatory neoplasm driven by mutations in MAPK pathway proto-oncogenes, such as BRAF. Clinical manifestations are protean, affecting virtually every system. This cohort study analyzed 661 patients with ECD to classify them based on clinical features and mutational profiles using unsupervised clustering. Nineteen clinical and mutational variables were subjected to...

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Source

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Identifiers

PMID: 40437172
DOI: 10.1038/s41375-025-02656-w
PMCID: PMC12865793

Genes

ECD
MAP2K1
BRAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 22 Oct 2026.

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