Genomic Alterations in Langerhans Cell Histiocytosis. Review uri icon

Overview

abstract

  • Langerhans cell histiocytosis (LCH) is a myeloid neoplastic disorder characterized by inflammatory lesions with clonal histiocytes. LCH is driven by activating mitogen-activated protein kinase (MAPK) pathway mutations. BRAFV600E is the most common mutation and is associated with more extensive disease at presentation and risks of front-line treatment failure, liver disease, and LCH-associated neurodegeneration. Genetic ancestry influences LCH with highest incidence in Hispanic populations. MAPK inhibitors are effective, but do not achieve cure in most cases. Clinical trials prospectively testing risk-stratification based on somatic mutation and/or detectable mutation in peripheral blood may improve outcomes for LCH patients.

publication date

  • March 24, 2025

Identity

Digital Object Identifier (DOI)

  • 10.1016/j.hoc.2025.02.001

PubMed ID

  • 40133143