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病例报告:胎儿宫颈未成熟畸胎瘤与拷贝数变异

Case report: Fetal cervical immature teratoma and copy number variations.

作者信息

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

机构信息

Department of Gynaecology and Obstetrics, Zhujiang Hospital, Southern Medical University, Guangzhou, China.

Department of Urology, Shenzhen Hospital, University of Chinese Academy of Sciences, Shenzhen, China.

出版信息

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

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.

摘要

胎儿颈部畸胎瘤是一种罕见的先天性颈部肿瘤。在此,我们报告一例胎儿患有颈部前方实性肿瘤,经组织学确诊为未成熟畸胎瘤。在染色体微阵列(CMA)和全外显子测序(WES)中发现该胎儿14号染色体q24.1-q24.3区域存在重复,这是一种拷贝数变异(CNV)且可能是新发的。超声联合磁共振成像(MRI)可被认为是一种相对可靠的诊断工具,而宫外产时治疗或在胎盘支持下切除肿瘤块可能会提高新生儿的存活几率。奇怪的是,她的下一胎也出现了同样的重复,且伴有复杂先天性心脏畸形。14号染色体q24.1-q24.3区域的CNV需要更多关注。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/39fe/9423720/26473c6c8e04/fonc-12-843268-g001.jpg

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