Article
Somatic activating ARAF mutations in Langerhans cell histiocytosis.
Blood - 15 May 2014
Nelson David S, Quispel Willemijn, Badalian-Very Gayane, van Halteren Astrid G S, van den Bos Cor, Bovée Judith V M G, Tian Sara Y, Van Hummelen Paul, Ducar Matthew, MacConaill Laura E, Egeler R Maarten, Rollins Barrett J
Abstract excerpt
The extracellular signal-regulated kinase (ERK) signaling pathway is activated in Langerhans cell histiocytosis (LCH) histiocytes, but only 60% of cases carry somatic activating mutations of BRAF. To identify other genetic causes of ERK pathway activation, we performed whole exome sequencing on purified LCH cells in 3 cases. One patient with wild-type BRAF alleles in his histiocytes had compound mutations in the...
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