白血病ジャーナル
オープンアクセス

概要

Detection of BRAF V600E Mutation in Langerhans Cell Histiocytosis Using High-resolution Melting Analysis in Decalcified, Paraffin-embedded Tissue

Bin Fu, Zhongqing Wang, Xiaolin Li, Sa A Wang and Zhuang Zuo

The oncogenic BRAF V600E mutation has recently been found in a substantial number of Langerhans cell histiocytosis (LCH) cases. We developed and validated a rapid and sensitive high-resolution melting (HRM) analysis–based assay to detect BRAF V600E mutation in formalin-fixed, paraffin-embedded (FFPE), decalcified bone tissues, including 32 LCH cases and four primary bone lymphoma cases. BRAF V600E mutation was found in 18 (56%) of the LCH cases. HRM results were confirmed by Sanger sequencing. Our assay is thus a rapid, sensitive, and low-cost way to detect the BRAF V600E mutation in LCH FFPE samples for clinical diagnostic use.