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Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy

Treatment options for rare tumors are limited, and comprehensive genomic profiling may provide useful information for novel treatment strategies and improving outcomes. The aim of this study is to explore the treatment opportunities of patients with rare tumors using immune checkpoint inhibitors (IC...

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Autores principales: Wang, Shuhang, Fang, Yuan, Jiang, Ning, Xing, Shujun, Li, Qin, Chen, Rongrong, Yi, Xin, Zhang, Zhiqian, Li, Ning
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7959707/
https://www.ncbi.nlm.nih.gov/pubmed/33732253
http://dx.doi.org/10.3389/fimmu.2021.631483
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author Wang, Shuhang
Fang, Yuan
Jiang, Ning
Xing, Shujun
Li, Qin
Chen, Rongrong
Yi, Xin
Zhang, Zhiqian
Li, Ning
author_facet Wang, Shuhang
Fang, Yuan
Jiang, Ning
Xing, Shujun
Li, Qin
Chen, Rongrong
Yi, Xin
Zhang, Zhiqian
Li, Ning
author_sort Wang, Shuhang
collection PubMed
description Treatment options for rare tumors are limited, and comprehensive genomic profiling may provide useful information for novel treatment strategies and improving outcomes. The aim of this study is to explore the treatment opportunities of patients with rare tumors using immune checkpoint inhibitors (ICIs) that have already been approved for routine treatment of common tumors. We collected immunotherapy-related indicators data from a total of 852 rare tumor patients from across China, including 136 programmed cell death ligand-1 (PD-L1) expression, 821 tumors mutational burden (TMB), 705 microsatellite instability (MSI) and 355 human leukocyte antigen class I (HLA-I) heterozygosity reports. We calculated the positive rates of these indicators and analyzed the consistency relationship between TMB and PD-L1, TMB and MSI, and HLA-I and PD-L1. The prevalence of PD-L1 positive, TMB-H, MSI-, and HLA-I -heterozygous was 47.8%, 15.5%, 7.4%, and 78.9%, respectively. The consistency ratio of TMB and PD-L1, TMB and MSI, and HLA-I and PD-L1 was 54.8% (78/135), 87.3% (598/685), and 47.4% (54/114), respectively. The prevalence of the four indicators varied widely across tumors systems and subtypes. The probability that neuroendocrine tumors (NETs) and biliary tumors may benefit from immunotherapy is high, since the proportion of TMB-H is as high as 50% and 25.4% respectively. The rates of PD-L1 positivity, TMB-H and MSI-H in carcinoma of unknown primary (CUP) were relatively high, while the rates of TMB-H and MSI-H in soft tissue tumors were both relatively low. Our study revealed the distribution of immunotherapeutic indicators in patients with rare tumors in China. Comprehensive genomic profiling may offer novel therapeutic modalities for patients with rare tumors to solve the dilemma of limited treatment options.
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spelling pubmed-79597072021-03-16 Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy Wang, Shuhang Fang, Yuan Jiang, Ning Xing, Shujun Li, Qin Chen, Rongrong Yi, Xin Zhang, Zhiqian Li, Ning Front Immunol Immunology Treatment options for rare tumors are limited, and comprehensive genomic profiling may provide useful information for novel treatment strategies and improving outcomes. The aim of this study is to explore the treatment opportunities of patients with rare tumors using immune checkpoint inhibitors (ICIs) that have already been approved for routine treatment of common tumors. We collected immunotherapy-related indicators data from a total of 852 rare tumor patients from across China, including 136 programmed cell death ligand-1 (PD-L1) expression, 821 tumors mutational burden (TMB), 705 microsatellite instability (MSI) and 355 human leukocyte antigen class I (HLA-I) heterozygosity reports. We calculated the positive rates of these indicators and analyzed the consistency relationship between TMB and PD-L1, TMB and MSI, and HLA-I and PD-L1. The prevalence of PD-L1 positive, TMB-H, MSI-, and HLA-I -heterozygous was 47.8%, 15.5%, 7.4%, and 78.9%, respectively. The consistency ratio of TMB and PD-L1, TMB and MSI, and HLA-I and PD-L1 was 54.8% (78/135), 87.3% (598/685), and 47.4% (54/114), respectively. The prevalence of the four indicators varied widely across tumors systems and subtypes. The probability that neuroendocrine tumors (NETs) and biliary tumors may benefit from immunotherapy is high, since the proportion of TMB-H is as high as 50% and 25.4% respectively. The rates of PD-L1 positivity, TMB-H and MSI-H in carcinoma of unknown primary (CUP) were relatively high, while the rates of TMB-H and MSI-H in soft tissue tumors were both relatively low. Our study revealed the distribution of immunotherapeutic indicators in patients with rare tumors in China. Comprehensive genomic profiling may offer novel therapeutic modalities for patients with rare tumors to solve the dilemma of limited treatment options. Frontiers Media S.A. 2021-02-25 /pmc/articles/PMC7959707/ /pubmed/33732253 http://dx.doi.org/10.3389/fimmu.2021.631483 Text en Copyright © 2021 Wang, Fang, Jiang, Xing, Li, Chen, Yi, Zhang and Li http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Immunology
Wang, Shuhang
Fang, Yuan
Jiang, Ning
Xing, Shujun
Li, Qin
Chen, Rongrong
Yi, Xin
Zhang, Zhiqian
Li, Ning
Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy
title Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy
title_full Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy
title_fullStr Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy
title_full_unstemmed Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy
title_short Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy
title_sort comprehensive genomic profiling of rare tumors in china: routes to immunotherapy
topic Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7959707/
https://www.ncbi.nlm.nih.gov/pubmed/33732253
http://dx.doi.org/10.3389/fimmu.2021.631483
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