Details

Autor(en) / Beteiligte

• Rollins, Barrett J., MD, PhD

Titel

Genomic Alterations in Langerhans Cell Histiocytosis

Ist Teil von

• Hematology/oncology clinics of North America, 2015-10, Vol.29 (5), p.839-851

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2015

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.