{"entity":{"id":"paper-badalian-very-braf-mutations-lch-blood-2010","kind":"paper","name":"Recurrent BRAF mutations in Langerhans cell histiocytosis","aka":[],"tldr":"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.","summary":"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.","asOf":"2026-09-18","links":[{"label":"Blood 2010","url":"https://doi.org/10.1182/blood-2010-04-279083"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/20519626/"}],"tags":[],"related":[],"cancers":["lch-single-system","lch-multisystem"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["blood"],"dependsOn":[],"notes":[],"journal":"Blood","year":2010,"doi":"10.1182/blood-2010-04-279083","pmid":"20519626","authors":"Badalian-Very G, Vergilio JA, Degar BA, et al.","paperType":"translational","findings":["BRAF V600E in 35 of 61 LCH samples (57 percent)."],"whatItMeans":"LCH is a MAPK-pathway-driven neoplasm; BRAF testing is now routine and BRAF and MEK inhibitors are used for refractory disease.","caveats":["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."],"changedPractice":true,"participants":61},"route":"/key-papers/paper-badalian-very-braf-mutations-lch-blood-2010/","neighbours":{"cancer":[{"id":"lch-multisystem","kind":"cancer","name":"Multisystem Langerhans cell histiocytosis (with or without risk-organ involvement)","route":"/cancers/lch-multisystem/"},{"id":"lch-single-system","kind":"cancer","name":"Single-system Langerhans cell histiocytosis (bone, skin or one other organ)","route":"/cancers/lch-single-system/"}],"journal":[{"id":"blood","kind":"journal","name":"Blood","route":"/journals/blood/"}]}}