Transcriptomic insights into adenoid cystic carcinoma via RNA sequencing

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

doi:10.3389/fgene.2023.1144945

Transcriptomic insights into adenoid cystic carcinoma via RNA sequencing

Front Genet. 2023 Apr 21:14:1144945. doi: 10.3389/fgene.2023.1144945. eCollection 2023.

Authors

Yu-Fang Tang^{1

2

3

4}, Pu-Gen An^{1

2

3}, Bao-Xin Gu^{1

2

3}, Shu Yi^{1

2

3}, Xiao Hu^{1

2

3}, Wen-Jie Wu^{1

2

3}, Jie Zhang^{1

2

3}

Affiliations

¹ Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing, China.
² National Center of Stomatology and National Clinical Research Center for Oral Diseases, Beijing, China.
³ Central Laboratory, Peking University School and Hospital of Stomatology, Beijing, China.
⁴ Department of Stomatology, Xinqiao Hospital (the Second Affiliated Hospital), Army Medical University, Chongqing, China.

Abstract

Background: The aim of this study was to investigate the underlying mechanisms of adenoid cystic carcinoma (ACC) at the transcriptome level. Materials and methods: We obtained paired tumor and normal salivary gland tissues from 15 ACC patients, which were prepared for RNA sequencing. Results: 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. Conclusion: We found a new gene fusion, TVP23C-CDRT4, that was highly expressed in ACC. PRAME may be an attractive target for ACC immunotherapy.

Keywords: RNA sequencing; adenoid cystic carcinoma (ACC); cancer germline antigens; gene fusions; mRNA.

Grants and funding

This work was supported by Beijing Xisike Clinical Oncology Research Foundation and the National Key Research and Development Program of China (2016YFC1102805) and the Project of Clinical Key Department Construction.