BioOne.org will be down briefly for maintenance on 12 February 2025 between 18:00-21:00 Pacific Time US. We apologize for any inconvenience.
How to translate text using browser tools
19 March 2021 Whole-exome sequencing reveals potential germline and somatic mutations in 60 malignant ovarian germ cell tumors
Juan Chen, Yan Li, Jianlei Wu, Yakun Liu, Shan Kang
Author Affiliations +
Abstract

Malignant ovarian germ cell tumors (MOGCTs) are rare and heterogeneous ovary tumors. We aimed to identify potential germline mutations and somatic mutations in MOGCTs by whole-exome sequencing. The peripheral blood and tumor samples from these patients were used to identify germline mutations and somatic mutations, respectively. For those genes with copy number alterations (deletion and duplication region), functional annotation was performed. Immunohistochemistry was performed to evaluate the expression of mutated genes corresponding to CNA deletion region and duplication region. In peripheral blood, copy number loss and gain were mostly found in yolk sac tumors (YSTs). Moreover, POU5F1 was the most significant mutated gene with mutation frequency >10% in both CNA deletion and duplication region. In addition, strong cytoplasm staining of POU5F1 (corresponding to CNA deletion region and duplication region) was found in two YST and nuclear staining in two dysgerminomas tumor samples. Genes corresponding to CNA deletion region were significantly enriched in the signaling pathway of regulating pluripotency of stem cells. In addition, genes corresponding to CNA duplication region were significantly enriched in the signaling pathways of RIG-I (DExD/H-box helicase 58)-like receptor, Toll-like receptor and nuclear factor (NF)-kappa. Keratin 4 (KRT4), ribosomal protein L14 (RPL14), proprotein convertase subtilisin/kexin type 6 (PCSK6), poly(A)-binding protein cytoplasmic 3 (PABPC3), and sterile alpha and TIR motif containing 1 (SARM1) mutations were detected in both peripheral blood and tumor samples. Identification of potential germline mutations and somatic mutations in MOGCTs may provide a new field in understanding the genetic feature of the rare biological tumor type in the ovary.

Summary sentence

The overall mutation rate was very low in MOGCTs, with an average of 0.97 mutations per Mb. POU5F1 was the most significant mutated gene with mutation frequency >10% in both CNA deletion and duplication region. KRT4, RPL14, PCSK6, PABPC3, and SARM1 mutations were detected in both peripheral blood and tumor samples.

© The Author(s) 2021. Published by Oxford University Press on behalf of Society for the Study of Reproduction. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com
Juan Chen, Yan Li, Jianlei Wu, Yakun Liu, and Shan Kang "Whole-exome sequencing reveals potential germline and somatic mutations in 60 malignant ovarian germ cell tumors," Biology of Reproduction 105(1), 164-178, (19 March 2021). https://doi.org/10.1093/biolre/ioab052
Received: 24 December 2020; Accepted: 16 March 2021; Published: 19 March 2021
KEYWORDS
functional analysis
germline mutation
malignant ovarian germ cell tumors
somatic mutation
tumor driver mutation
whole-exome sequencing
RIGHTS & PERMISSIONS
Get copyright permission
Back to Top