Case report: Fetal cervical immature teratoma and copy number variations

Dianjie Li; Hong Gao; Wanting Zheng; Chunzhu Jin; Yuxin Huang; Shilei Pan

doi:10.3389/fonc.2022.843268

Case report: Fetal cervical immature teratoma and copy number variations

Front Oncol. 2022 Aug 15:12:843268. doi: 10.3389/fonc.2022.843268. eCollection 2022.

Authors

Dianjie Li¹, Hong Gao², Wanting Zheng³, Chunzhu Jin¹, Yuxin Huang¹, Shilei Pan¹

Affiliations

¹ Department of Gynaecology and Obstetrics, Zhujiang Hospital, Southern Medical University, Guangzhou, China.
² Department of Urology, Shenzhen Hospital, University of Chinese Academy of Sciences, Shenzhen, China.
³ Department of Gynaecology and Obstetrics, Shantou Central Hospital, Shantou, China.

Abstract

Fetal cervical teratoma is a rare congenital neck tumor. Here, we report a case of a fetus with an anterior solid neck tumor that was confirmed to have an immature teratoma by histology. A duplication was found at chromosome 14q24.1-q24.3 of the fetus in chromosome microarray (CMA) and whole exome sequencing (WES), which was a copy number variation (CNV) and a probably new-onset. Ultrasound coupled with magnetic resonance imaging (MRI) can be considered to be a relatively reliable diagnostic tool, whereas ex-utero intrapartum therapy or resection of the tumor mass on placental support may improve the chances of the newborn's survival. Strangely, the same duplication occurred on her next fetus that was found with complex congenital heart malformations. CNV at chromosome 14q24.1-q24.3 needs to be paid more attention.

Keywords: chromosome microarray; copy number variations; mutation; teratoma; whole exome sequencing.

Publication types

Case Reports