AUTHOR=Tang Yu-Fang , An Pu-Gen , Gu Bao-Xin , Yi Shu , Hu Xiao , Wu Wen-Jie , Zhang Jie 

TITLE=Transcriptomic insights into adenoid cystic carcinoma via RNA sequencing

JOURNAL=Frontiers in Genetics

VOLUME=14

YEAR=2023

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2023.1144945

DOI=10.3389/fgene.2023.1144945

ISSN=1664-8021

ABSTRACT=<p><bold>Background:</bold> The aim of this study was to investigate the underlying mechanisms of adenoid cystic carcinoma (ACC) at the transcriptome level.</p><p><bold>Materials and methods:</bold> We obtained paired tumor and normal salivary gland tissues from 15 ACC patients, which were prepared for RNA sequencing.</p><p><bold>Results:</bold> Gene enrichment analysis revealed that the upregulated pathways were mainly involved in axonogenesis, and the downregulated pathways were mainly related to leukocyte migration, the adaptive immune response, lymphocyte-mediated immunity, and the humoral immune response. T-cells, B-cells and NK cells showed low infiltration in ACC tissues. In addition to the gene fusions MYB-NFIB and MYBL1-NFIB, a new gene fusion, TVP23C-CDRT4, was also detected in 3 ACC tissues. PRAME was significantly upregulated in ACC tissues, while antigen-presenting human leukocyte antigen (HLA) genes were downregulated.</p><p><bold>Conclusion:</bold> We found a new gene fusion, TVP23C-CDRT4, that was highly expressed in ACC. PRAME may be an attractive target for ACC immunotherapy.</p>