Article
Analysis of the BRAF and MAP2K1 mutations in patients with Langerhans cell histiocytosis in Japan.
International journal of hematology - 1 Oct 2020
Hayase Tomomi, Saito Shiori, Shioda Yoko, Imamura Toshihiko, Watanabe Kenichiro, Ohki Kentaro, Yoshioka Takako, Oh Yukiko, Kawahara Yuta, Niijima Hitomi, Imashuku Shinsaku, Morimoto Akira
Abstract excerpt
In Langerhans cell histiocytosis (LCH), somatic gene mutations in the mitogen-activated protein kinase pathway have been identified in more than 80% of cases in Western countries, in which mutually exclusive BRAF and MAP2K1 mutations are involved. Among them, BRAF V600E mutation is the major contributor (50-60%). In 59 patients (50 children and nine adults) with LCH (not including pulmonary LCH) in Japan, we...
Topics
- Adolescent
- Child
- Child, Preschool
- Female
- Genetic Association Studies
- Histiocytosis, Langerhans-Cell
- Humans
- Infant
- Japan
- MAP Kinase Kinase 1