Somatic activating ARAF mutations in Langerhans cell histiocytosis.

@article{Nelson2014SomaticAA,
  title={Somatic activating ARAF mutations in Langerhans cell histiocytosis.},
  author={David Spencer Nelson and Willemijn T. Quispel and Gayane Badalian-Very and Astrid G. S. van Halteren and Cor van den Bos and Judith V M G Bov{\'e}e and Sara Y Tian and Paul van Hummelen and Matthew D. Ducar and Laura E Macconaill and R Maarten Egeler and Barrett J. Rollins},
  journal={Blood},
  year={2014},
  volume={123 20},
  pages={3152-5}
}
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 kinase domain of ARAF. Unlike wild-type ARAF, this mutant was a highly active… CONTINUE READING

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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 .
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 .
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 .
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