Cancer cells restrict immunogenicity of retrotransposon expression via distinct mechanisms

Immunity. 2024 Dec 10;57(12):2879-2894.e11. doi: 10.1016/j.immuni.2024.10.015. Epub 2024 Nov 21.

Abstract

To thrive, cancer cells must navigate acute inflammatory signaling accompanying oncogenic transformation, such as via overexpression of repeat elements. We examined the relationship between immunostimulatory repeat expression, tumor evolution, and the tumor-immune microenvironment. Integration of multimodal data from a cohort of pancreatic ductal adenocarcinoma (PDAC) patients revealed expression of specific Alu repeats predicted to form double-stranded RNAs (dsRNAs) and trigger retinoic-acid-inducible gene I (RIG-I)-like-receptor (RLR)-associated type-I interferon (IFN) signaling. Such Alu-derived dsRNAs also anti-correlated with pro-tumorigenic macrophage infiltration in late stage tumors. We defined two complementary pathways whereby PDAC may adapt to such anti-tumorigenic signaling. In mutant TP53 tumors, ORF1p from long interspersed nuclear element (LINE)-1 preferentially binds Alus and decreases their expression, whereas adenosine deaminases acting on RNA 1 (ADAR1) editing primarily reduces dsRNA formation in wild-type TP53 tumors. Depletion of either LINE-1 ORF1p or ADAR1 reduced tumor growth in vitro. The fact that tumors utilize multiple pathways to mitigate immunostimulatory repeats implies the stress from their expression is a fundamental phenomenon to which PDAC, and likely other tumors, adapt.

Keywords: ADAR1; Tp53; cancer evolution; cancer immunity; inverted Alus; retrotransposons; tumor-immune microenvironment.

MeSH terms

  • Adenosine Deaminase / genetics
  • Adenosine Deaminase / metabolism
  • Alu Elements* / genetics
  • Animals
  • Carcinoma, Pancreatic Ductal* / genetics
  • Carcinoma, Pancreatic Ductal* / immunology
  • Cell Line, Tumor
  • Gene Expression Regulation, Neoplastic / immunology
  • Humans
  • Interferon Type I / immunology
  • Interferon Type I / metabolism
  • Long Interspersed Nucleotide Elements* / genetics
  • Macrophages / immunology
  • Macrophages / metabolism
  • Mice
  • Pancreatic Neoplasms* / genetics
  • Pancreatic Neoplasms* / immunology
  • RNA, Double-Stranded* / immunology
  • RNA-Binding Proteins* / genetics
  • RNA-Binding Proteins* / metabolism
  • Retroelements / genetics
  • Signal Transduction / immunology
  • Tumor Microenvironment* / immunology
  • Tumor Suppressor Protein p53* / genetics
  • Tumor Suppressor Protein p53* / metabolism

Substances

  • RNA-Binding Proteins
  • RNA, Double-Stranded
  • Tumor Suppressor Protein p53
  • Adenosine Deaminase
  • ADAR protein, human
  • Interferon Type I
  • Retroelements