Article
BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease.
Acta neuropathologica communications - 4 Nov 2019
Picarsic J, Pysher T, Zhou H, Fluchel M, Pettit T, Whitehead M, Surrey L F, Harding B, Goldstein G, Fellig Y, Weintraub M, Mobley B C, Sharples P M, Sulis M L, Diamond E L, Jaffe R, Shekdar K, Santi M
Abstract excerpt
The family of juvenile xanthogranuloma family neoplasms (JXG) with ERK-pathway mutations are now classified within the "L" (Langerhans) group, which includes Langerhans cell histiocytosis (LCH) and Erdheim Chester disease (ECD). Although the BRAF V600E mutation constitutes the majority of molecular alterations in ECD and LCH, only three reported JXG neoplasms, all in male pediatric patients with localized central...
Topics
- Algorithms
- Brain
- Child
- Child, Preschool
- Erdheim-Chester Disease
- Female
- Humans
- Infant
- Male
- Mutation