Article
Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis.
Blood - 24 Nov 2016
Chakraborty Rikhia, Burke Thomas M, Hampton Oliver A, Zinn Daniel J, Lim Karen Phaik Har, Abhyankar Harshal, Scull Brooks, Kumar Vijetha, Kakkar Nipun, Wheeler David A, Roy Angshumoy, Poulikakos Poulikos I, Merad Miriam, McClain Kenneth L, Parsons D Williams, Allen Carl E
Abstract excerpt
Langerhans cell histiocytosis (LCH) is characterized by inflammatory lesions containing pathologic CD207+ dendritic cells with constitutively activated ERK. Mutually exclusive somatic mutations in MAPK pathway genes have been identified in ∼75% of LCH cases, including recurrent BRAF-V600E and MAP2K1 mutations. To elucidate mechanisms of ERK activation in the remaining 25% of patients, we performed whole-exome...
Topics
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- Enzyme Activation
- Female
- Histiocytosis, Langerhans-Cell
- Humans
- Infant