The BRAF-V600E mutation in circulating cell-free DNA is a promising biomarker of high-risk adult Langerhans cell histiocytosis

摘要

We read with great interest the recent review article on Langerhans cell histiocytosis (LCH) by Delprat and Arico.As they mentioned, LCH is a rare disorder characterized by local accumulation of dysplastic Langerhans cells and a wide range of organ involvement. Although the precise pathophysiology remains unknown, recent findings suggest that LCH is likely to be a clonally expanding myeloid neoplasm. One of the strongest lines of evidence is a report by Badalian-Very et al that the oncogenic BRAF-Y600E mutation was detected in LCH lesions from a majority of patients.