High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.

doi:10.1182/blood-2012-05-430140

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Article

High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.

Blood - 27 Sept 2012

Haroche Julien, Charlotte Frédéric, Arnaud Laurent, von Deimling Andreas, Hélias-Rodzewicz Zofia, Hervier Baptiste, Cohen-Aubart Fleur, Launay David, Lesot Annette, Mokhtari Karima, Canioni Danielle, Galmiche Louise, Rose Christian, Schmalzing Marc, Croockewit Sandra, Kambouchner Marianne, Copin Marie-Christine, Fraitag Sylvie, Sahm Felix, Brousse Nicole, Amoura Zahir, Donadieu Jean, Emile Jean-François

Abstract excerpt

Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis. BRAF mutations have been observed in Langerhans cell histiocytosis (LCH). We investigated the frequency of BRAF mutations in several types of histiocytoses. Histology from 127 patients with histiocytoses were...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Erdheim-Chester Disease
Female
Follow-Up Studies
France
Histiocytosis, Non-Langerhans-Cell

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Male

Middle Aged

Mutation

Prevalence

Prognosis

Prospective Studies

Proto-Oncogene Proteins B-raf

Young Adult

Source

Open in PubMed

Identifiers

PMID: 22879539
DOI: 10.1182/blood-2012-05-430140

Genes

BRAF
ECD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-22879539-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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