Loss of 5-Hydroxymethylcytosine Is an Epigenetic Biomarker in Cutaneous T-Cell Lymphoma

J Invest Dermatol. 2018 Nov;138(11):2388-2397. doi: 10.1016/j.jid.2018.05.007. Epub 2018 May 24.

Abstract

DNA hydroxymethylation at the 5 position of cytosine (5-hmC) is a product of the TET family of DNA hydroxylases. Accumulating evidence shows that loss of 5-hmC is critical for various biological and pathological processes. However, its level in cutaneous T-cell lymphoma (CTCL) remains largely unknown. Here, we report that the loss of 5-hmC is an epigenetic hallmark of CTCL, with diagnostic and prognostic implications. Immunohistochemistry staining on 90 mycosis fungoides (MF) samples showed a significant decrease of 5-hmC staining in CD4+ T cells in patch and tumor stages, especially in MF with large cell transformation, compared with benign inflammatory dermatoses. The 5-hmC staining level decreased with disease progression and showed remarkable loss in the large cells of large cell transformed MF samples, regardless of the CD30 positivity. Furthermore, 5-hmC decrease was correlated to poor overall survival in our patient cohort. Pharmacological augments of global 5-hmC with l-ascorbic acid in CTCL cell lines led to remarkable 5-hmC accumulation and promoted apoptosis in CTCL cell lines, as well as in patient-derived CTCL cells. In conclusion, 5-hmC is an epigenetic mark of predictive value in MF prognosis. Restoration of 5-hmC levels in MF may serve as a therapeutic regimen in CTCL.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 5-Methylcytosine / analogs & derivatives*
  • 5-Methylcytosine / metabolism
  • Apoptosis
  • Biomarkers, Tumor / metabolism*
  • CD4-Positive T-Lymphocytes / immunology*
  • Carcinogenesis
  • Cell Line, Tumor
  • Disease Progression
  • Epigenesis, Genetic
  • Female
  • Humans
  • Keratinocytes / physiology*
  • Lymphoma, T-Cell, Cutaneous / diagnosis*
  • Lymphoma, T-Cell, Cutaneous / mortality
  • Male
  • Mycosis Fungoides / diagnosis*
  • Neoplasm Staging
  • Prognosis
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / mortality
  • Survival Analysis

Substances

  • Biomarkers, Tumor
  • 5-hydroxymethylcytosine
  • 5-Methylcytosine