Cell-specific gene expression in Langerhans cell histiocytosis lesions reveals a distinct profile compared with epidermal Langerhans cells

J Immunol. 2010 Apr 15;184(8):4557-67. doi: 10.4049/jimmunol.0902336. Epub 2010 Mar 10.

Abstract

Langerhans cell histiocytosis (LCH) is a rare disease characterized by heterogeneous lesions containing CD207(+) Langerhans cells (LCs) and lymphocytes that can arise in almost any tissue and cause significant morbidity and mortality. After decades of research, the cause of LCH remains speculative. A prevailing model suggests that LCH arises from malignant transformation and metastasis of epidermal LCs. In this study, CD207(+) cells and CD3(+) T cells were isolated from LCH lesions to determine cell-specific gene expression. Compared with control epidermal CD207(+) cells, the LCH CD207(+) cells yielded 2113 differentially expressed genes (false discovery rate < 0.01). Surprisingly, the expression of many genes previously associated with LCH, including cell-cycle regulators, proinflammatory cytokines, and chemokines, were not significantly different from control LCs in our study. However, several novel genes whose products activate and recruit T cells to sites of inflammation, including SPP1 (osteopontin), were highly overexpressed in LCH CD207(+) cells. Furthermore, several genes associated with immature myeloid dendritic cells were overexpressed in LCH CD207(+) cells. Compared with the peripheral CD3(+) cells from LCH patients, the LCH lesion CD3(+) cells yielded only 162 differentially regulated genes (false discovery rate < 0.01), and the expression profile of the LCH lesion CD3(+) cells was consistent with an activated regulatory T cell phenotype with increased expression of FOXP3, CTLA4, and SPP1. Results from this study support a model of LCH pathogenesis in which lesions do not arise from epidermal LCs but from accumulation of bone marrow-derived immature myeloid dendritic cells that recruit activated lymphocytes.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Antigens, CD / biosynthesis
  • Antigens, CD / genetics
  • Biomarkers / metabolism
  • CD3 Complex / biosynthesis
  • CD3 Complex / genetics
  • Child
  • Child, Preschool
  • Epidermal Cells*
  • Epidermis / immunology*
  • Epidermis / pathology
  • Gene Expression Profiling* / methods
  • Histiocytosis, Langerhans-Cell / genetics*
  • Histiocytosis, Langerhans-Cell / immunology
  • Histiocytosis, Langerhans-Cell / pathology*
  • Humans
  • Infant
  • Langerhans Cells / cytology*
  • Langerhans Cells / immunology*
  • Langerhans Cells / pathology
  • Lectins, C-Type / biosynthesis
  • Lectins, C-Type / genetics
  • Mannose-Binding Lectins / biosynthesis
  • Mannose-Binding Lectins / genetics
  • Oligonucleotide Array Sequence Analysis

Substances

  • Antigens, CD
  • Biomarkers
  • CD207 protein, human
  • CD3 Complex
  • Lectins, C-Type
  • Mannose-Binding Lectins

Associated data

  • GEO/GSE16395