Abstract
Histone methyltransferase SETD2 plays a critical role in maintaining genomic integrity and stability. Here, we investigated the characteristics of SETD2 somatic mutation in the cancer genome atlas pan-cancer cohort. Our data revealed that, compared with SETD2 nonmutant patients, SETD2 mutant patients had higher tumor mutation burden and microsatellite instability. In addition, the transcriptions of most genes related to immune activities were upregulated in patients with SETD2 mutant tumors. Further examination of cancer patients treated with immune checkpoint inhibitors suggested SETD2 mutation was associated with favorable clinical outcomes. These results have implication for the personalization of cancer immunotherapy.
Highlights
Immune checkpoint inhibitors (ICIs) targeting programmed cell death protein-1 (PD-1), programmed cell death ligand 1 (PD-L1), and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) can significantly improve the overall survival (OS) in cancer patients1
We speculate the mutation of SETD2 results in the enrichment of tumor mutationspecific neo-antigens in the cell surface, the immune system will recognize and attack these cells with the help of ICIs
With accumulated data that are publicly available, here we conducted a comprehensive analysis to examine the characteristics of SETD2 mutation and its association with the efficacy of immunotherapy
Summary
Immune checkpoint inhibitors (ICIs) targeting programmed cell death protein-1 (PD-1), programmed cell death ligand 1 (PD-L1), and cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) can significantly improve the overall survival (OS) in cancer patients1. TMB stratified by SETD2 mutation status in different tumors were presented in Supplemental Fig. 1a. The associations between MSIsensor scores and SETD2 mutation in different tumors were presented in Supplemental Fig. 1b.
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