Clonal proliferation of Langerhans cells in Langerhans cell histiocytosis
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2021, The LancetCitation Excerpt :The BRAFV600E mutation encodes a cytoplasmic mutant protein with constitutive activation, which confers independence from upstream activation by one of the RAS proteins. Although the clonality of some cases of LCH had previously been reported,19 the neoplastic nature of the disease became unequivocal when this somatic oncogene mutation was detected. Recurrent somatic BRAFV600E mutations in biopsy specimens of tissue infiltrated by LCH have been confirmed by several researchers, regardless of patient age or disease site.20–23