研究动态
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胎儿心包内畸胎瘤和相关 3q29 缺失:病例报告。

Intrapericardial Teratoma and Associated 3q29 Deletion in a Fetus: Case Report.

发表日期:2024 Aug 20
作者: Onur Guralp, Katharina Schoner, Aline Wolter, Johanna Schenk, Maleen Reitz, Ellydda Widriani, Katrin Froebius, Axel Weber, Roland Axt-Fliedner
来源: Immunity & Ageing

摘要:

根据其位置、大小和与心脏结构的接近程度,心包内畸胎瘤可能导致严重的循环障碍甚至胎儿死亡。一名34岁的G2P1于20周5天就诊,胎儿右胸腔内出现实性囊性肿块,起源于右心房或肺,有非免疫性胎儿水肿体征,很快导致胎儿宫内死亡。详细的尸检显示,由于源自主动脉根部的球形肿瘤肿块而导致胎儿普遍水肿的迹象。肿瘤的组织学检查显示出畸胎瘤的特征性形态。通过单核苷酸多态性阵列鉴定出 3q29 处的 1.6 Mb 微缺失。这是第一份诊断出 3q29 微缺失胎儿心包内畸胎瘤的报告。心包内畸胎瘤预后不良,胎儿结局取决于水肿的发展。为了做出明确的诊断,尸检至关重要,这强调了胎儿病理学家的地位以及跨学科合作的必要性。Thieme。版权所有。
Depending on its location, size, and proximity to the cardiac structures, an intrapericardial teratoma may lead to severe circulatory disturbances and even fetal demise. A 34-year-old G2P1 presented at 20w5d with a solid cystic mass in the right thorax of the fetus, originating from the right atrium or lung, with signs of non-immune fetal hydrops, soon resulting in intrauterine fetal death. Detailed post-mortem autopsy revealed signs of hydrops fetalis universalis due to a spherical tumor mass originating from the aortic root. Histologic examination of the tumor showed the characteristic morphology of a teratoma. A 1.6-Mb microdeletion at 3q29 was identified by single nucleotide polymorphism array. This is the first report presenting the diagnosis of an intrapericardial teratoma in a fetus with a microdeletion of 3q29. Intrapericardial teratoma has a poor prognosis and the fetal outcome relies on the development of hydrops. A post-mortem examination is essential in order to make a definitive diagnosis, which underlines the status of the fetal pathologist and the need for interdisciplinary cooperation.Thieme. All rights reserved.