Cargando…

SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients

As one of the 10 most common cancers in men, the incidence of renal cell carcinoma (RCC) has been increasing in recent years. Clear cell renal cell carcinoma (ccRCC) is the most common pathological type of RCC, counting for 80%-90% of cases. Immunotherapy is becoming increasingly important in the tr...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Pengju, Xiao, Jeifei, Zhou, Bangfen, Wei, Jinhuan, Luo, Junhang, Chen, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732295/
https://www.ncbi.nlm.nih.gov/pubmed/33031058
http://dx.doi.org/10.18632/aging.103781
_version_ 1783622061611024384
author Li, Pengju
Xiao, Jeifei
Zhou, Bangfen
Wei, Jinhuan
Luo, Junhang
Chen, Wei
author_facet Li, Pengju
Xiao, Jeifei
Zhou, Bangfen
Wei, Jinhuan
Luo, Junhang
Chen, Wei
author_sort Li, Pengju
collection PubMed
description As one of the 10 most common cancers in men, the incidence of renal cell carcinoma (RCC) has been increasing in recent years. Clear cell renal cell carcinoma (ccRCC) is the most common pathological type of RCC, counting for 80%-90% of cases. Immunotherapy is becoming increasingly important in the treatment of advanced RCC. Tumor mutation burden (TMB) is a potent marker for predicting the response to immune checkpoint blockade (ICB) treatment. Here, we analyzed somatic mutation data for ccRCC from The Cancer Genome Atlas datasets. We found that the frequently mutated gene SYNE1 is associated with higher TMBs and with a poor clinical prognosis. To further investigate the relationship between SYNE1 mutation and the immune system, we used Gene Set Enrichment Analysis and the CIBERSORT algorithm. They showed that SYNE1 mutations correlate with immune system pathways and immune cell tumor infiltration. We also found that SYNE1 mutation correlated with a better response to ICB therapy. Thus, mutation of SYNE1 correlates with a higher TMB and a poorer outcome in ccRCC, but may mediate better responses to ICB therapy.
format Online
Article
Text
id pubmed-7732295
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher Impact Journals
record_format MEDLINE/PubMed
spelling pubmed-77322952020-12-18 SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients Li, Pengju Xiao, Jeifei Zhou, Bangfen Wei, Jinhuan Luo, Junhang Chen, Wei Aging (Albany NY) Research Paper As one of the 10 most common cancers in men, the incidence of renal cell carcinoma (RCC) has been increasing in recent years. Clear cell renal cell carcinoma (ccRCC) is the most common pathological type of RCC, counting for 80%-90% of cases. Immunotherapy is becoming increasingly important in the treatment of advanced RCC. Tumor mutation burden (TMB) is a potent marker for predicting the response to immune checkpoint blockade (ICB) treatment. Here, we analyzed somatic mutation data for ccRCC from The Cancer Genome Atlas datasets. We found that the frequently mutated gene SYNE1 is associated with higher TMBs and with a poor clinical prognosis. To further investigate the relationship between SYNE1 mutation and the immune system, we used Gene Set Enrichment Analysis and the CIBERSORT algorithm. They showed that SYNE1 mutations correlate with immune system pathways and immune cell tumor infiltration. We also found that SYNE1 mutation correlated with a better response to ICB therapy. Thus, mutation of SYNE1 correlates with a higher TMB and a poorer outcome in ccRCC, but may mediate better responses to ICB therapy. Impact Journals 2020-10-08 /pmc/articles/PMC7732295/ /pubmed/33031058 http://dx.doi.org/10.18632/aging.103781 Text en Copyright: © 2020 Li et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/3.0/) (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Paper
Li, Pengju
Xiao, Jeifei
Zhou, Bangfen
Wei, Jinhuan
Luo, Junhang
Chen, Wei
SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients
title SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients
title_full SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients
title_fullStr SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients
title_full_unstemmed SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients
title_short SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients
title_sort syne1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7732295/
https://www.ncbi.nlm.nih.gov/pubmed/33031058
http://dx.doi.org/10.18632/aging.103781
work_keys_str_mv AT lipengju syne1mutationmayenhancetheresponsetoimmunecheckpointblockadetherapyinclearcellrenalcellcarcinomapatients
AT xiaojeifei syne1mutationmayenhancetheresponsetoimmunecheckpointblockadetherapyinclearcellrenalcellcarcinomapatients
AT zhoubangfen syne1mutationmayenhancetheresponsetoimmunecheckpointblockadetherapyinclearcellrenalcellcarcinomapatients
AT weijinhuan syne1mutationmayenhancetheresponsetoimmunecheckpointblockadetherapyinclearcellrenalcellcarcinomapatients
AT luojunhang syne1mutationmayenhancetheresponsetoimmunecheckpointblockadetherapyinclearcellrenalcellcarcinomapatients
AT chenwei syne1mutationmayenhancetheresponsetoimmunecheckpointblockadetherapyinclearcellrenalcellcarcinomapatients