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Review
. 2015 Oct;29(5):839-51.
doi: 10.1016/j.hoc.2015.06.004.

Genomic Alterations in Langerhans Cell Histiocytosis

Barrett J Rollins  1
Affiliations
Review

Genomic Alterations in Langerhans Cell Histiocytosis

Barrett J Rollins. Hematol Oncol Clin North Am. 2015 Oct.

Abstract

The discovery of recurrent somatic genomic alterations in Langerhans cell histiocytosis (LCH) has led to a new understanding of LCH as a clonal neoplastic disorder. Most of the abnormalities described to date affect the RAS/RAF/MEK/extracellular-signal-regulated kinase (ERK) pathway: more than 50% of LCH cases carry activating mutations in BRAF, whereas another 10% to 28% carry activating mutations of MAP2K1, which encodes MEK1. The pathogenetic importance of these mutations has been confirmed by reports of significant clinical responses to RAF inhibitors.

Keywords: BRAF; LCH; Langerhans cell histiocytosis; MAP2K1; MEK1.

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