Dysregulated signaling, proliferation and apoptosis impact on the pathogenesis of TCRγδ+ T cell large granular lymphocyte leukemia

PLoS One. 2017 Apr 13;12(4):e0175670. doi: 10.1371/journal.pone.0175670. eCollection 2017.

Abstract

TCRγδ+ T-LGL leukemia is a rare form of chronic mature T cell disorders in elderly, which is generally characterized by a persistently enlarged CD3+CD57+TCRγδ+ large granular lymphocyte population in the peripheral blood with a monoclonal phenotype. Clinically, the disease is heterogeneous, most patients being largely asymptomatic, although neutropenia, fatigue and B symptoms and underlying diseases such as autoimmune diseases or malignancies are also often observed. The etiology of TCRγδ+ T-LGL proliferations is largely unknown. Here, we aimed to investigate underlying molecular mechanisms of these rare proliferations by performing gene expression profiling of TCRγδ+ T-LGL versus normal TCRγδ+ T cell subsets. From our initial microarray dataset we observed that TCRγδ+ T-LGL leukemia forms a separate group when compared with different healthy control TCRγδ+ T cell subsets, correlating best with the healthy TemRA subset. The lowest correlation was seen with the naive subset. Based on specific comparison between healthy control cells and TCRγδ+ T-LGL leukemia cells we observed up-regulation of survival, proliferation and hematopoietic system related genes, with a remarkable down-regulation of apoptotic pathway genes. RQ-PCR validation of important genes representative for the dataset, including apoptosis (XIAP, CASP1, BCLAF1 and CFLAR), proliferation/development (ID3) and inflammation (CD28, CCR7, CX3CR1 and IFNG) processes largely confirmed the dysregulation in proliferation and apoptosis. Based on these expression data we conclude that TCRγδ+ T-LGL leukemia is likely the result of an underlying aberrant molecular mechanisms leading to increased proliferation and reduced apoptosis.

MeSH terms

  • Adult
  • Aged
  • Apoptosis
  • Apoptosis Regulatory Proteins / genetics
  • Cell Proliferation
  • Female
  • Gene Expression Profiling / methods*
  • Gene Expression Regulation, Leukemic
  • Humans
  • Leukemia, Large Granular Lymphocytic / genetics
  • Leukemia, Large Granular Lymphocytic / pathology*
  • Male
  • Middle Aged
  • Oligonucleotide Array Sequence Analysis / methods*
  • Receptors, Antigen, T-Cell, gamma-delta / genetics*
  • Signal Transduction

Substances

  • Apoptosis Regulatory Proteins
  • Receptors, Antigen, T-Cell, gamma-delta

Grants and funding

This work was supported by Roche - unrestricted grant. The funder had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.