High prevalence of BRAF^V600E in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis

Abstract

The abstract of this research has been submitted to the virtual 36th Annual Meeting of the Histiocyte Society (October and November 2020) titled "High prevalence of BRAFV600E in patients with cholestasis, sclerosing cholangitis, or liver fibrosis secondary to Langerhans cell histiocytosis" and was published in the Pediatric Blood & Cancer journal, and the manuscript has been previously submitted to this journal as a Research Article.

Clinical phenotype of adult-onset systemic histiocytosis harboring <i>BRAF</i> in-frame deletions

“…Our study is the first to describe the clinical phenotype of histiocytosis patients with a BRAF Δβ3-αC , and showed a high frequency of sclerosing cholangitis and vulvar manifestations, which are typical LCH manifestations but usually rarely observed. In previous published cohorts of adults, liver manifestations are described in 10-15% of LCH cases 10 , and a study of 14 pediatric patients with LCH and liver involvement showed a 100% prevalence of BRAF V600E mutation 11 .Vulvar manifestations have only been described in some cases series 12 .…”