DNA methylation-based prediction of response to immune checkpoint inhibition in metastatic melanoma

J Immunother Cancer. 2021 Jul;9(7):e002226. doi: 10.1136/jitc-2020-002226.

Abstract

Background: Therapies based on targeting immune checkpoints have revolutionized the treatment of metastatic melanoma in recent years. Still, biomarkers predicting long-term therapy responses are lacking.

Methods: A novel approach of reference-free deconvolution of large-scale DNA methylation data enabled us to develop a machine learning classifier based on CpG sites, specific for latent methylation components (LMC), that allowed for patient allocation to prognostic clusters. DNA methylation data were processed using reference-free analyses (MeDeCom) and reference-based computational tumor deconvolution (MethylCIBERSORT, LUMP).

Results: We provide evidence that DNA methylation signatures of tumor tissue from cutaneous metastases are predictive for therapy response to immune checkpoint inhibition in patients with stage IV metastatic melanoma.

Conclusions: These results demonstrate that LMC-based segregation of large-scale DNA methylation data is a promising tool for classifier development and treatment response estimation in cancer patients under targeted immunotherapy.

Keywords: biomarkers; biostatistics; immunotherapy; melanoma; tumor; tumor biomarkers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA Methylation / genetics*
  • Female
  • Humans
  • Immune Checkpoint Inhibitors / pharmacology
  • Immune Checkpoint Inhibitors / therapeutic use*
  • Immunotherapy / methods*
  • Male
  • Melanoma / drug therapy*
  • Melanoma / genetics

Substances

  • Immune Checkpoint Inhibitors