In:
Pediatric Blood & Cancer, Wiley, Vol. 65, No. 9 ( 2018-09)
Abstract:
Patients with Langerhans cell histiocytosis (LCH) harbor BRAF V600E and activating mutations of MAP2K1/MEK1 in 50% and 25% of cases, respectively. We evaluated a patient with treatment‐refractory LCH for mutations in the RAS‐RAF‐MEK‐ERK pathway and identified a novel mutation in the MAP2K1 gene resulting in a p.L98_K104 〉 Q deletion and predicted to be auto‐activating. During treatment with the MEK inhibitor trametinib, the patient's disease showed significant progression. In vitro characterization of the MAP2K1 p.L98_K104 〉 Q deletion confirmed its effect on cellular activation of the ERK pathway and drug resistance.
Type of Medium:
Online Resource
ISSN:
1545-5009
,
1545-5017
Language:
English
Publisher:
Wiley
Publication Date:
2018
detail.hit.zdb_id:
2130978-4