Bonasoni Maria Paola, Comitini Giuseppina, Barbieri Veronica, Palicelli Andrea, Salfi Nunzio, Pilu Gianluigi
Pathology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Department of Obstetrics & Gynaecology, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, 42122 Reggio Emilia, Italy.
Diagnostics (Basel). 2021 Aug 25;11(9):1543. doi: 10.3390/diagnostics11091543.
Teratomas are the most common congenital tumors, occurring along the midline or paraxial sites, or uncommonly, the mediastinum. Teratomas are classified as mature, containing only differentiated tissues from the three germinal layers; and immature, which also present with neuroectodermal elements, ependymal rosettes, and immature mesenchyme. Herein, we describe a new case of fetal mediastinal immature teratoma detected at 21 weeks of gestational age (wga) + 1 day with thorough cytogenetic analysis. Ultrasound (US) showed a solid and cystic mass located in the anterior mediastinum, measuring 1.8 × 1.3 cm with no signs of hydrops. At 22 wga, US showed a mass of 2.4 cm in diameter and moderate pericardial effusions. Although the prenatal risks and available therapeutic strategies were explained to the parents, they opted for termination of pregnancy. Histology showed an immature teratoma, Norris grade 2. Karyotype on the fetus and tumor exhibited a chromosomal asset of 46,XX. The fetal outcome in the case of mediastinal teratoma relies on the development of hydrops due to mass compression of vessels and heart failure. Prenatal US diagnosis and close fetal monitoring are paramount in planning adequate treatment, such as in utero surgery, ex utero intrapartum therapy (EXIT) procedure, and surgical excision after birth.
畸胎瘤是最常见的先天性肿瘤,多发生于中线或近轴部位,少数发生于纵隔。畸胎瘤分为成熟型,仅包含来自三个胚层的分化组织;以及未成熟型,还伴有神经外胚层成分、室管膜玫瑰花结和未成熟间充质。在此,我们描述了一例在孕21周+1天检测到的胎儿纵隔未成熟畸胎瘤新病例,并进行了全面的细胞遗传学分析。超声(US)显示前纵隔有一个实性和囊性肿块,大小为1.8×1.3 cm,无水肿迹象。孕22周时,超声显示肿块直径为2.4 cm,伴有中度心包积液。尽管已向父母解释了产前风险和可用的治疗策略,但他们仍选择终止妊娠。组织学检查显示为未成熟畸胎瘤,诺里斯分级为2级。胎儿和肿瘤的核型显示染色体组成为46,XX。纵隔畸胎瘤病例的胎儿结局取决于因肿块压迫血管和心力衰竭导致的水肿发展情况。产前超声诊断和密切的胎儿监测对于规划适当的治疗至关重要,如宫内手术、宫外产时治疗(EXIT)程序以及出生后手术切除。