Recurrent BRAF mutations in Langerhans cell histiocytosis
More than half of Langerhans cell histiocytosis samples carried the same BRAF V600E mutation seen in melanoma, settling a long argument by showing the disease is a clonal neoplasm and opening it to targeted therapy.
Overview
Genotyping of 61 archived LCH samples with a mass-spectrometric cancer mutation panel found BRAF V600E in 35 (57 percent), across ages and sites, with no other recurrent oncogene mutations detected; the mutation was confirmed by immunohistochemistry and was present in the pathological CD1a-positive cells.
- BRAF V600E in 35 of 61 LCH samples (57 percent).
LCH is a MAPK-pathway-driven neoplasm; BRAF testing is now routine and BRAF and MEK inhibitors are used for refractory disease.
- Archived samples; later work found MAP2K1 and other MAPK alterations in most BRAF wild-type cases.
- Mutation status did not clearly predict outcome in this series.
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