Article
High prevalence of somatic MAP2K1 mutations in BRAF V600E-negative Langerhans cell histiocytosis.
Blood - 4 Sept 2014
Brown Noah A, Furtado Larissa V, Betz Bryan L, Kiel Mark J, Weigelin Helmut C, Lim Megan S, Elenitoba-Johnson Kojo S J
Abstract excerpt
Langerhans cell histiocytosis (LCH) represents a clonal proliferation of Langerhans cells. BRAF V600E mutations have been identified in approximately 50% of cases. To discover other genetic mechanisms underlying LCH pathogenesis, we studied 8 cases of LCH using a targeted next-generation sequencing platform. An E102_I103del mutation in MAP2K1 was identified in one BRAF wild-type case and confirmed by Sanger...
Topics
- Amino Acid Substitution
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Glutamic Acid
- Histiocytosis, Langerhans-Cell
- Humans
- MAP Kinase Kinase 1
- Male
- Mutation, Missense
- Prevalence