Research Paper Volume 12, Issue 19 pp 19316—19324
SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients
- 1 Department of Urology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong Province, P. R. China
- 2 Department of Extracorporeal Circulation, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong Province, P. R. China
- 3 Department of Urology, The First Affiliated Hospital of Hainan Medical University, Haikou, Hainan, P.R.China
Received: April 3, 2020 Accepted: July 14, 2020 Published: October 8, 2020https://doi.org/10.18632/aging.103781
How to Cite
Copyright: © 2020 Li et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.