Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma

Background Tumor-infiltrating CD8+ T cells and neoantigens are predictors of a favorable prognosis and response to immunotherapy with checkpoint inhibitors in many types of adult cancer, but little is known about their role in pediatric malignancies. Here, we analyzed the prognostic strength of T ce...

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Main Authors: Ami V Desai, Stefani Spranger, Thomas F Gajewski, Yuanyuan Zha, Jason J Luke, Peter Pytel, Kyle Hernandez, Samuel L Volchenboum, Susan L Cohn
Format: Article
Language:English
Published: BMJ Publishing Group 2021-07-01
Series:Journal for ImmunoTherapy of Cancer
Online Access:https://jitc.bmj.com/content/9/7/e002417.full
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author Ami V Desai
Stefani Spranger
Thomas F Gajewski
Yuanyuan Zha
Jason J Luke
Peter Pytel
Kyle Hernandez
Samuel L Volchenboum
Susan L Cohn
author_facet Ami V Desai
Stefani Spranger
Thomas F Gajewski
Yuanyuan Zha
Jason J Luke
Peter Pytel
Kyle Hernandez
Samuel L Volchenboum
Susan L Cohn
author_sort Ami V Desai
collection DOAJ
description Background Tumor-infiltrating CD8+ T cells and neoantigens are predictors of a favorable prognosis and response to immunotherapy with checkpoint inhibitors in many types of adult cancer, but little is known about their role in pediatric malignancies. Here, we analyzed the prognostic strength of T cell-inflamed gene expression and neoantigen load in high-risk neuroblastoma. We also compared transcriptional programs in T cell-inflamed and non-T cell-inflamed high-risk neuroblastomas to investigate possible mechanisms of immune exclusion.Methods A defined T cell-inflamed gene expression signature was used to categorize high-risk neuroblastomas in the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) program (n=123), and the Gabriella Miller Kids First (GMKF) program (n=48) into T cell-inflamed, non-T cell-inflamed, and intermediate groups. Associations between the T cell-inflamed and non-T cell-inflamed group, MYCN amplification, and survival were analyzed by Cox proportional hazards models. Additional survival analysis was conducted after integrating neoantigen load predicted from somatic mutations. Pathways activated in non-T cell-inflamed relative to T cell-inflamed tumors were analyzed using causal network analysis.Results Patients with T cell-inflamed high-risk tumors showed improved overall survival compared with those with non-T cell-inflamed tumors (p<0.05), independent of MYCN amplification status, in both TARGET and GMKF cohorts. Higher neoantigen load was also associated with better event-free and overall survival (p<0.005) and was independent of the T cell-inflamed signature. Activation of MYCN, ASCL1, SOX11, and KMT2A transcriptional programs was inversely correlated with the T cell-inflamed signature in both cohorts.Conclusions Our results indicate that tumors from children with high-risk neuroblastoma harboring a strong T cell-inflamed signature have a more favorable clinical outcome, and neoantigen load is a prognosis predictor, independent of T cell inflammation. Strategies to target SOX11 and other signaling pathways associated with non-T cell-inflamed tumors should be pursued as potential immune-potentiating interventions.
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spelling doaj-art-b260b4d6e43c4d658b87dc58bb5c263c2025-08-20T02:12:49ZengBMJ Publishing GroupJournal for ImmunoTherapy of Cancer2051-14262021-07-019710.1136/jitc-2021-002417Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastomaAmi V Desai0Stefani Spranger1Thomas F Gajewski2Yuanyuan Zha3Jason J Luke4Peter Pytel5Kyle Hernandez6Samuel L Volchenboum7Susan L Cohn8Department of Pediatrics, The University of Chicago, Chicago, Illinois, USAKoch Institute for Integrative Cancer Research at MIT, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA1 Medicine, The University of Chicago Medicine Comprehensive Cancer Center, Chicago, Illinois, USAComprehensive Cancer Center, University of Chicago, Chicago, Illinois, USA1UPMC Hillman Cancer Center, Pittsburgh, PA, USADepartment of Pathology, The University of Chicago, Chicago, Illinois, USACenter for Translational Data Science, The University of Chicago, Chicago, Illinois, USADepartment of Pediatrics, The University of Chicago, Chicago, Illinois, USADepartment of Pediatrics, The University of Chicago, Chicago, Illinois, USABackground Tumor-infiltrating CD8+ T cells and neoantigens are predictors of a favorable prognosis and response to immunotherapy with checkpoint inhibitors in many types of adult cancer, but little is known about their role in pediatric malignancies. Here, we analyzed the prognostic strength of T cell-inflamed gene expression and neoantigen load in high-risk neuroblastoma. We also compared transcriptional programs in T cell-inflamed and non-T cell-inflamed high-risk neuroblastomas to investigate possible mechanisms of immune exclusion.Methods A defined T cell-inflamed gene expression signature was used to categorize high-risk neuroblastomas in the Therapeutically Applicable Research to Generate Effective Treatments (TARGET) program (n=123), and the Gabriella Miller Kids First (GMKF) program (n=48) into T cell-inflamed, non-T cell-inflamed, and intermediate groups. Associations between the T cell-inflamed and non-T cell-inflamed group, MYCN amplification, and survival were analyzed by Cox proportional hazards models. Additional survival analysis was conducted after integrating neoantigen load predicted from somatic mutations. Pathways activated in non-T cell-inflamed relative to T cell-inflamed tumors were analyzed using causal network analysis.Results Patients with T cell-inflamed high-risk tumors showed improved overall survival compared with those with non-T cell-inflamed tumors (p<0.05), independent of MYCN amplification status, in both TARGET and GMKF cohorts. Higher neoantigen load was also associated with better event-free and overall survival (p<0.005) and was independent of the T cell-inflamed signature. Activation of MYCN, ASCL1, SOX11, and KMT2A transcriptional programs was inversely correlated with the T cell-inflamed signature in both cohorts.Conclusions Our results indicate that tumors from children with high-risk neuroblastoma harboring a strong T cell-inflamed signature have a more favorable clinical outcome, and neoantigen load is a prognosis predictor, independent of T cell inflammation. Strategies to target SOX11 and other signaling pathways associated with non-T cell-inflamed tumors should be pursued as potential immune-potentiating interventions.https://jitc.bmj.com/content/9/7/e002417.full
spellingShingle Ami V Desai
Stefani Spranger
Thomas F Gajewski
Yuanyuan Zha
Jason J Luke
Peter Pytel
Kyle Hernandez
Samuel L Volchenboum
Susan L Cohn
Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma
Journal for ImmunoTherapy of Cancer
title Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma
title_full Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma
title_fullStr Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma
title_full_unstemmed Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma
title_short Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma
title_sort immunogenomic determinants of tumor microenvironment correlate with superior survival in high risk neuroblastoma
url https://jitc.bmj.com/content/9/7/e002417.full
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