Prospective blinded study of BRAFV600E mutation detection in cell-free DNA of patients with systemic histiocytic disorders.

doi:10.1158/2159-8290.CD-14-0742

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Article

Prospective blinded study of BRAFV600E mutation detection in cell-free DNA of patients with systemic histiocytic disorders.

Cancer discovery - 1 Jan 2015

Hyman David M, Diamond Eli L, Vibat Cecile Rose T, Hassaine Latifa, Poole Jason C, Patel Minal, Holley Veronica R, Cabrilo Goran, Lu Timothy T, Arcila Maria E, Chung Young Rock, Rampal Raajit, Lacouture Mario E, Rosen Neal, Meric-Bernstam Funda, Baselga José, Kurzrock Razelle, Erlander Mark G, Janku Filip, Abdel-Wahab Omar

Abstract excerpt

UNLABELLED: Patients with Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) have a high frequency of BRAF(V600E) mutations and respond to RAF inhibitors. However, detection of mutations in tissue biopsies is particularly challenging in histiocytoses due to low tumor content an...

Topics

Adolescent
Adult
Aged
Amino Acid Substitution
Biopsy
Child
Codon
Cross-Sectional Studies
DNA Mutational Analysis
Erdheim-Chester Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Gene Frequency

Genes, ras

Genotype

Histiocytosis

Histiocytosis, Langerhans-Cell

Humans

Magnetic Resonance Imaging

Source

Open in PubMed Open full text

Identifiers

PMID: 25324352
DOI: 10.1158/2159-8290.CD-14-0742
PMCID: PMC5705028

Genes

BRAF
ECD
KRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-25324352-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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