Blood spotlight on Langerhans cell histiocytosis

Blood. 2014 Aug 7;124(6):867-72. doi: 10.1182/blood-2014-02-556407. Epub 2014 Jun 3.

Abstract

Langerhans cell histiocytosis (LCH) is a rare disease affecting people of any age, with widely variable clinical manifestations and different outcomes. The precise chain of events driving lesional granuloma formation has remained elusive for many years. There is evidence for inherited predisposition to and derangement of apoptosis and inflammation in lesional dendritic cells. Recently somatic BRAF(V600E) mutation in myeloid precursor dendritic cells was associated with the more aggressive form of the disease, although the same mutation in a more differentiated dendritic cell might drive a less aggressive disease. Whether this picture convincingly put LCH in the field of myeloid neoplasm remains to be determined. Altogether, these findings suggest that future therapeutic strategy might incorporate a screening of this genetic mutation for high-risk patients potentially suitable for target therapy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Amino Acid Substitution
  • Granuloma / pathology
  • Histiocytosis, Langerhans-Cell* / diagnosis
  • Histiocytosis, Langerhans-Cell* / genetics
  • Histiocytosis, Langerhans-Cell* / therapy
  • Humans
  • Inflammation / pathology
  • Langerhans Cells / pathology
  • Models, Biological
  • Mutation, Missense
  • Prognosis
  • Proto-Oncogene Proteins B-raf / genetics

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf