Detection of BRAF V600E mutation in radiological Langerhans cell histiocytosis-associated neurodegenerative disease using droplet digital PCR analysis.

Abstract excerpt

Langerhans cell histiocytosis-associated neurodegenerative disease (LCH-ND) is the most serious late complication secondary to LCH and is gradually progressive, destructive, and irreversible. Detection of the BRAF V600E mutation in peripheral blood mononuclear cells (PBMCs), even in the absence of active LCH lesions, is considered a sign of clinical LCH-ND, presenting with both abnormal imaging findings and...

Topics

• Humans
• Proto-Oncogene Proteins B-raf
• Neurodegenerative Diseases
• Leukocytes, Mononuclear
• Mutation
• Histiocytosis, Langerhans-Cell
• Polymerase Chain Reaction