Indication

Erdheim-Chester disease with BRAF V600 mutation

Erdheim-Chester disease with BRAF V600 mutation is a rare, clonal non-Langerhans cell histiocytic neoplasm driven by an activating oncogenic mutation in the BRAF gene, most frequently the BRAF V600E substitution. Read more about Erdheim-Chester disease with BRAF V600 mutation

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About Erdheim-Chester disease with BRAF V600 mutation.

Erdheim-Chester disease with BRAF V600 mutation is a rare, clonal non-Langerhans cell histiocytic neoplasm driven by an activating oncogenic mutation in the BRAF gene, most frequently the BRAF V600E substitution.

Primarily affecting middle-aged and older adults, this multisystem disease is characterized by the uncontrolled accumulation and infiltration of foamy, lipid-laden macrophages and accompanying fibrosis across diverse organ systems.

Common manifestations include bilateral, symmetric osteosclerosis of long bones, retroperitoneal fibrosis, perinephric infiltration, cardiovascular encasement, central diabetes insipidus, and neurological deficits.

Presence of the BRAF V600 mutation causes constitutive activation of the intracellular MAPK/ERK signaling pathway, driving cellular proliferation, tissue inflammation, and end-organ dysfunction.

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