Article
Clinical resistance associated with a novel MAP2K1 mutation in a patient with Langerhans cell histiocytosis.
Pediatric blood & cancer - 1 Sept 2018
Azorsa David O, Lee David W, Wai Daniel H, Bista Ranjan, Patel Apurvi R, Aleem Eiman, Henry Michael M, Arceci Robert J
Abstract excerpt
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...
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