BRAF-V600E-mutated Rosai-Dorfman-Destombes disease and Langerhans cell histiocytosis with response to BRAF inhibitor

Blood Adv. 2019 Jun 25;3(12):1848-1853. doi: 10.1182/bloodadvances.2019000093.

Abstract

  1. Demonstration of BRAF-V600E in Rosai-Dorfman-Destombes disease requires sensitive molecular assays and molecular-based tissue immunostain.

  2. BRAF-V600E blood testing is important for disease-monitoring BRAF-mutated histiocytosis and can guide inhibitor treatment plans.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Female
  • Fluorodeoxyglucose F18 / metabolism
  • Histiocytosis, Langerhans-Cell / complications
  • Histiocytosis, Langerhans-Cell / diagnostic imaging
  • Histiocytosis, Langerhans-Cell / drug therapy*
  • Histiocytosis, Langerhans-Cell / genetics
  • Histiocytosis, Sinus / complications
  • Histiocytosis, Sinus / diagnostic imaging
  • Histiocytosis, Sinus / drug therapy*
  • Histiocytosis, Sinus / genetics
  • Humans
  • Imidazoles / administration & dosage
  • Imidazoles / therapeutic use
  • Infant
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Mutation
  • Oximes / administration & dosage
  • Oximes / therapeutic use
  • Positron Emission Tomography Computed Tomography / methods
  • Protein Kinase Inhibitors / administration & dosage
  • Protein Kinase Inhibitors / therapeutic use
  • Proto-Oncogene Proteins B-raf / blood
  • Proto-Oncogene Proteins B-raf / drug effects
  • Proto-Oncogene Proteins B-raf / metabolism*
  • Treatment Outcome

Substances

  • Imidazoles
  • Oximes
  • Protein Kinase Inhibitors
  • Fluorodeoxyglucose F18
  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf
  • dabrafenib