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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.
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.
LCH is a MAPK-pathway-driven neoplasm; BRAF testing is now routine and BRAF and MEK inhibitors are used for refractory disease.
Shares Single-system Langerhans cell histiocytosis (bone, skin or one other organ), Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement), Blood.
Shares Single-system Langerhans cell histiocytosis (bone, skin or one other organ), Blood.
Shares Single-system Langerhans cell histiocytosis (bone, skin or one other organ), Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement).
Shares Single-system Langerhans cell histiocytosis (bone, skin or one other organ), Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement).
Shares Single-system Langerhans cell histiocytosis (bone, skin or one other organ), Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement).
Shares Single-system Langerhans cell histiocytosis (bone, skin or one other organ), Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement).
Shares Single-system Langerhans cell histiocytosis (bone, skin or one other organ), Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement).
Shares Single-system Langerhans cell histiocytosis (bone, skin or one other organ), Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement).