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A circulating subset of BRAFV600E -positive cells in infants with high-risk Langerhans cell histiocytosis treated with BRAF inhibitors.

Rita PochSolenne Le LouetZofia Hélias-RodzewiczNawa HachemGeneviève PlatMohamed-Aziz BarkaouiHélène LapillonneFrançois DelhommeauJean-François EmileJean DonadieuSébastien Héritier
Published in: British journal of haematology (2021)
BRAF inhibitors are an effective treatment for BRAFV600E -mutated, risk-organ-positive Langerhans cell histiocytosis (RO+ LCH). However, cell-free BRAFV600E DNA often persists during therapy and recurrence frequently occurs after therapy discontinuation. To identify a pathological reservoir of BRAFV600E -mutated cells, we studied peripheral blood cells obtained from six infants with RO+ multisystem (MS) LCH that received targeted therapy. After cell sorting, the BRAFV600E mutation was detected in monocytes (n = 5), B lymphocytes (n = 3), T lymphocytes (n = 2), and myeloid and plasmacytoid dendritic cells (n = 2 each). This biomarker may offer an interesting tool for monitoring the effectiveness of new therapeutic approaches for weaning children with RO+ LCH from targeted therapy.
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