DNA methylation of indoleamine 2,3-dioxygenase 1 (IDO1) in head and neck squamous cell carcinomas correlates with IDO1 expression, HPV status, patients' survival, immune cell infiltrates, mutational load, and interferon γ signature.


Journal

EBioMedicine
ISSN: 2352-3964
Titre abrégé: EBioMedicine
Pays: Netherlands
ID NLM: 101647039

Informations de publication

Date de publication:
Oct 2019
Historique:
received: 11 03 2019
revised: 19 09 2019
accepted: 24 09 2019
pubmed: 20 10 2019
medline: 20 3 2020
entrez: 20 10 2019
Statut: ppublish

Résumé

The immune checkpoint, indoleamine 2,3-dioxygenase 1, is under investigation as target of novel immunotherapies for cancers, including head and neck squamous cell carcinomas (HNSCC). The aim of our study was to analyze DNA methylation of the encoding gene (IDO1) in HNSCC. Methylation of three CpG sites within the promoter, promoter flank, and gene body was investigated and correlated with mRNA expression, immune cell infiltration, mutational burden, human papillomavirus (HPV)-status, and overall survival in a cohort of N = 528 HNSCC patients obtained from The Cancer Genome Atlas. In addition, IDO1 immunohistochemistry and DNA methylation analysis was performed in an independent cohort of N = 138 HNSCC samples. Significant inverse correlations of IDO1 methylation and IDO1 mRNA expression were found in the promoter and promoter flank region (Spearman's ρ = -0.163 and ρ = -0.377, respectively) while a positive correlation was present in the gene body (ρ = 0.502; all P < 0.001). IDO1 DNA methylation significantly correlated with IDO1 protein expressing immune cells as well as tumor cells. IDO1 promoter flank hypermethylation was significantly associated with poor overall survival (P < 0.001). In addition, we discovered significant correlations between IDO1 methylation and expression with RNA signatures of immune cell infiltrates and with HPV-status, mutational load (methylation only), and interferon γ signature. Our results suggest IDO1 expression levels are epigenetically regulated by DNA methylation. This study provides rationale to test IDO1 methylation as potential biomarker for prediction of response to IDO1 immune checkpoint inhibitors in HNSCC.

Sections du résumé

BACKGROUND BACKGROUND
The immune checkpoint, indoleamine 2,3-dioxygenase 1, is under investigation as target of novel immunotherapies for cancers, including head and neck squamous cell carcinomas (HNSCC). The aim of our study was to analyze DNA methylation of the encoding gene (IDO1) in HNSCC.
METHODS METHODS
Methylation of three CpG sites within the promoter, promoter flank, and gene body was investigated and correlated with mRNA expression, immune cell infiltration, mutational burden, human papillomavirus (HPV)-status, and overall survival in a cohort of N = 528 HNSCC patients obtained from The Cancer Genome Atlas. In addition, IDO1 immunohistochemistry and DNA methylation analysis was performed in an independent cohort of N = 138 HNSCC samples.
FINDINGS RESULTS
Significant inverse correlations of IDO1 methylation and IDO1 mRNA expression were found in the promoter and promoter flank region (Spearman's ρ = -0.163 and ρ = -0.377, respectively) while a positive correlation was present in the gene body (ρ = 0.502; all P < 0.001). IDO1 DNA methylation significantly correlated with IDO1 protein expressing immune cells as well as tumor cells. IDO1 promoter flank hypermethylation was significantly associated with poor overall survival (P < 0.001). In addition, we discovered significant correlations between IDO1 methylation and expression with RNA signatures of immune cell infiltrates and with HPV-status, mutational load (methylation only), and interferon γ signature.
INTERPRETATION CONCLUSIONS
Our results suggest IDO1 expression levels are epigenetically regulated by DNA methylation. This study provides rationale to test IDO1 methylation as potential biomarker for prediction of response to IDO1 immune checkpoint inhibitors in HNSCC.

Identifiants

pubmed: 31628024
pii: S2352-3964(19)30649-8
doi: 10.1016/j.ebiom.2019.09.038
pmc: PMC6838413
pii:
doi:

Substances chimiques

Biomarkers, Tumor 0
Cytokines 0
IDO1 protein, human 0
Indoleamine-Pyrrole 2,3,-Dioxygenase 0
RNA, Messenger 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

341-352

Informations de copyright

Crown Copyright © 2019. Published by Elsevier B.V. All rights reserved.

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Auteurs

Verena Sailer (V)

Pathology of the University Hospital Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.

Ulrike Sailer (U)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Sigmund-Freud-Street 25, 53105 Bonn, Germany.

Emma Grace Bawden (EG)

Department of Microbiology and Immunology, The University of Melbourne at the Peter Doherty Institute for Infection and Immunity, Melbourne, Victoria, Australia.

Romina Zarbl (R)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Sigmund-Freud-Street 25, 53105 Bonn, Germany.

Constanze Wiek (C)

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Düsseldorf, Düsseldorf, Germany.

Timo J Vogt (TJ)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Sigmund-Freud-Street 25, 53105 Bonn, Germany.

Joern Dietrich (J)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Sigmund-Freud-Street 25, 53105 Bonn, Germany.

Sophia Loick (S)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Sigmund-Freud-Street 25, 53105 Bonn, Germany.

Ingela Grünwald (I)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Sigmund-Freud-Street 25, 53105 Bonn, Germany.

Marieta Toma (M)

Institute of Pathology, University Hospital Bonn, Bonn, Germany.

Carsten Golletz (C)

Institute of Pathology, University Hospital Bonn, Bonn, Germany.

Andreas Gerstner (A)

Department of Otolaryngology, Head and Neck Surgery, Municipal Hospital Braunschweig, Braunschweig, Germany.

Glen Kristiansen (G)

Institute of Pathology, University Hospital Bonn, Bonn, Germany.

Friedrich Bootz (F)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Sigmund-Freud-Street 25, 53105 Bonn, Germany.

Kathrin Scheckenbach (K)

Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Düsseldorf, Düsseldorf, Germany.

Jennifer Landsberg (J)

Department of Dermatology and Allergy, University Hospital Bonn, Bonn, Germany.

Dimo Dietrich (D)

Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Sigmund-Freud-Street 25, 53105 Bonn, Germany. Electronic address: dimo.dietrich@gmail.com.

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