Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancer

Background Despite the great achievements made in immune-checkpoint-blockade (ICB) in cancer therapy, there are no effective predictive biomarkers in gastrointestinal (GI) cancer.Methods This study included 93 metastatic GI patients treated with ICBs. The first cohort comprising 73 GI cancer patient...

Full description

Saved in:
Bibliographic Details
Main Authors: Lin Shen, Huan Chen, Ming Lu, Shuang Li, Henghui Zhang, Jifang Gong, Zhihao Lu, Zhi Peng, Xi Jiao, Lihong Wu, Wenbo Han, Jianling Zou, Jianing Yu, Huaibo Sun
Format: Article
Language:English
Published: BMJ Publishing Group 2020-10-01
Series:Journal for ImmunoTherapy of Cancer
Online Access:https://jitc.bmj.com/content/8/2/e000374.full
Tags: Add Tag
No Tags, Be the first to tag this record!
_version_ 1850196933253005312
author Lin Shen
Huan Chen
Ming Lu
Shuang Li
Henghui Zhang
Jifang Gong
Zhihao Lu
Zhi Peng
Xi Jiao
Lihong Wu
Wenbo Han
Jianling Zou
Jianing Yu
Huaibo Sun
author_facet Lin Shen
Huan Chen
Ming Lu
Shuang Li
Henghui Zhang
Jifang Gong
Zhihao Lu
Zhi Peng
Xi Jiao
Lihong Wu
Wenbo Han
Jianling Zou
Jianing Yu
Huaibo Sun
author_sort Lin Shen
collection DOAJ
description Background Despite the great achievements made in immune-checkpoint-blockade (ICB) in cancer therapy, there are no effective predictive biomarkers in gastrointestinal (GI) cancer.Methods This study included 93 metastatic GI patients treated with ICBs. The first cohort comprising 73 GI cancer patients were randomly assigned into discovery (n=44) and validation (n=29) cohorts. Comprehensive genomic profiling was performed on all samples to determine tumor mutational burden (TMB) and copy-number alterations (CNAs). A subset of samples was collected for RNA immune oncology (IO) panel sequencing, microsatellite instability (MSI)/mismatch repair and program death ligand 1 (PD-L1) expression evaluation. In addition, 20 gastric cancer (GC) patients were recruited as the second validation cohort.Results In the first cohort of 73 GI cancer patients, a lower burden of CNA was observed in patients with durable clinical benefit (DCB). In both the discovery (n=44) and validation (n=29) subsets, lower burden of CNA was associated with an improved clinical benefit and better overall survival (OS). Efficacy also correlated with a higher TMB. Of note, a combinatorial biomarker of TMB and CNA may better stratify DCB patients from ICB treatment, which was further confirmed in the second validation cohort of 20 GC patients. Finally, patients with lower burden of CNA revealed increased immune signatures in our cohort and The Cancer Genome Atlas data sets as well.Conclusions Our results suggest that the burden of CNA may have superior predictive value compared with other signatures, including PD-L1, MSI and TMB. The joint biomarker of CNA burden and TMB may better stratify DCB patients, thereby providing a rational choice for GI patients treated with ICBs.
format Article
id doaj-art-d766e6f16abe4c22a03534e640902608
institution OA Journals
issn 2051-1426
language English
publishDate 2020-10-01
publisher BMJ Publishing Group
record_format Article
series Journal for ImmunoTherapy of Cancer
spelling doaj-art-d766e6f16abe4c22a03534e6409026082025-08-20T02:13:19ZengBMJ Publishing GroupJournal for ImmunoTherapy of Cancer2051-14262020-10-018210.1136/jitc-2019-000374Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancerLin Shen0Huan Chen1Ming Lu2Shuang Li3Henghui Zhang4Jifang Gong5Zhihao Lu6Zhi Peng7Xi Jiao8Lihong Wu9Wenbo Han10Jianling Zou11Jianing Yu12Huaibo Sun13State Key Laboratory of Holistic Integrative Management of Gastrointestinal Cancers, Beijing Key Laboratory of Carcinogenesis and Translational Research, Department of Gastrointestinal Oncology, Peking University Cancer Hospital, Beijing, China2 Genecast Precision Medicine Technology Institute, Beijing, ChinaClinical Epidemiology Unit, Shandong University Qilu Hospital, Jinan, China1 Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong SAR, People`s Republic of China4 Institute of Infectious Diseases, Beijing Ditan Hospital, Capital Medical University, Beijing, ChinaDepartment of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing, China1 Department of Gastrointestinal Oncology, Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing, ChinaKey Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Department of Gastrointestinal Oncology, Peking University Cancer Hospital & Institute, Beijing, China1 Department of Gastrointestinal Oncology, Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing, ChinaDepartment of General Practice, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China2 Genecast Precision Medicine Technology Institute, Beijing, China1 Department of Gastrointestinal Oncology, Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing, China2 Genecast Precision Medicine Technology Institute, Beijing, China2 Genecast Precision Medicine Technology Institute, Beijing, ChinaBackground Despite the great achievements made in immune-checkpoint-blockade (ICB) in cancer therapy, there are no effective predictive biomarkers in gastrointestinal (GI) cancer.Methods This study included 93 metastatic GI patients treated with ICBs. The first cohort comprising 73 GI cancer patients were randomly assigned into discovery (n=44) and validation (n=29) cohorts. Comprehensive genomic profiling was performed on all samples to determine tumor mutational burden (TMB) and copy-number alterations (CNAs). A subset of samples was collected for RNA immune oncology (IO) panel sequencing, microsatellite instability (MSI)/mismatch repair and program death ligand 1 (PD-L1) expression evaluation. In addition, 20 gastric cancer (GC) patients were recruited as the second validation cohort.Results In the first cohort of 73 GI cancer patients, a lower burden of CNA was observed in patients with durable clinical benefit (DCB). In both the discovery (n=44) and validation (n=29) subsets, lower burden of CNA was associated with an improved clinical benefit and better overall survival (OS). Efficacy also correlated with a higher TMB. Of note, a combinatorial biomarker of TMB and CNA may better stratify DCB patients from ICB treatment, which was further confirmed in the second validation cohort of 20 GC patients. Finally, patients with lower burden of CNA revealed increased immune signatures in our cohort and The Cancer Genome Atlas data sets as well.Conclusions Our results suggest that the burden of CNA may have superior predictive value compared with other signatures, including PD-L1, MSI and TMB. The joint biomarker of CNA burden and TMB may better stratify DCB patients, thereby providing a rational choice for GI patients treated with ICBs.https://jitc.bmj.com/content/8/2/e000374.full
spellingShingle Lin Shen
Huan Chen
Ming Lu
Shuang Li
Henghui Zhang
Jifang Gong
Zhihao Lu
Zhi Peng
Xi Jiao
Lihong Wu
Wenbo Han
Jianling Zou
Jianing Yu
Huaibo Sun
Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancer
Journal for ImmunoTherapy of Cancer
title Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancer
title_full Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancer
title_fullStr Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancer
title_full_unstemmed Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancer
title_short Tumor copy-number alterations predict response to immune-checkpoint-blockade in gastrointestinal cancer
title_sort tumor copy number alterations predict response to immune checkpoint blockade in gastrointestinal cancer
url https://jitc.bmj.com/content/8/2/e000374.full
work_keys_str_mv AT linshen tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT huanchen tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT minglu tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT shuangli tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT henghuizhang tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT jifanggong tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT zhihaolu tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT zhipeng tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT xijiao tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT lihongwu tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT wenbohan tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT jianlingzou tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT jianingyu tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer
AT huaibosun tumorcopynumberalterationspredictresponsetoimmunecheckpointblockadeingastrointestinalcancer