Whole-exome sequencing in cervical adenocarcinoma in mainland Chinese patients

Xinxin Zhang; Jing Guo; Yaping Cai; Xiugui Sheng

doi:10.21037/tcr-19-2930

Whole-exome sequencing in cervical adenocarcinoma in mainland Chinese patients

Transl Cancer Res. 2020 Nov;9(11):6889-6899. doi: 10.21037/tcr-19-2930.

Authors

Xinxin Zhang^#^{1

2

3}, Jing Guo^#⁴, Yaping Cai⁴, Xiugui Sheng^{1

2}

Affiliations

¹ Department of Gynecologic Oncology, Shandong Cancer Hospital and Institute, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, China.
² Cancer Hospital of Chinese Academy of Medical Sciences, Shenzhen Center, Shenzhen, China.
³ Cheeloo College of Medicine, Shandong University, Jinan, China.
⁴ Department of Medical Oncology, Xiamen Key Laboratory of Antitumor Drug Transformation Research, The First Affiliated Hospital of Xiamen University, Xiamen, China.

^# Contributed equally.

Abstract

Background: Cervical cancer is the most common gynecological malignancy worldwide. Adenocarcinoma is an important pathological type of cervical cancer. In recent years, the incidence of adenocarcinoma is rising in some countries and the prognosis of it remains poor. A precise description of the mutational landscape in cervical adenocarcinoma may provide insights into a better selection of treatments and improve prognosis.

Methods: In this study, we conducted whole-exome sequencing (WES) for cervical adenocarcinomas and matched blood samples from a cohort of 24 mainland Chinese patients. Additionally, the Human-Papilloma virus (HPV) infection statuses of these tumor samples were detected, and the genes that were enriched in both HPV positive and negative samples were also analyzed.

Results: The results of WES revealed the gene expression profile of cervical adenocarcinoma of women in mainland China and identified multiple genes/pathways, which are frequently mutated in these tumors, including the PI3K-AKT (KRAS, PIK3CA and PTEN), estrogen signaling (KRAS, PIK3CA and GNAS) and NK cell-mediated antibody-dependent cellular cytotoxicity pathways. Besides, seven patients had HPV infection, and the mutated genes in HPV-positive tumor tissues were relatively consistent, while the mutation profiles of HPV-negative tumor tissues were relatively scattered.

Conclusions: Taken together, these findings provide novel insights into the pathogenesis of cervical adenocarcinomas. They suggest the potential for individualized treatment of cervical adenocarcinoma according to genomic information.

Keywords: Cervical adenocarcinoma; somatic mutations; whole-exome sequencing (WES).