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Case Reports
. 2021 Aug 25;11(9):1543.
doi: 10.3390/diagnostics11091543.

Fetal Presentation of Mediastinal Immature Teratoma: Ultrasound, Autopsy and Cytogenetic Findings

Maria Paola Bonasoni  1 , Giuseppina Comitini  2 , Veronica Barbieri  3 , Andrea Palicelli  1 , Nunzio Salfi  4 , Gianluigi Pilu  5
Affiliations
Case Reports

Fetal Presentation of Mediastinal Immature Teratoma: Ultrasound, Autopsy and Cytogenetic Findings

Maria Paola Bonasoni et al. Diagnostics (Basel). .

Abstract

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.

Keywords: immature teratoma; karyotype; second trimester ultrasound.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Ultrasound image of the teratoma: transverse view of the fetal chest at 22 weeks; a complex mass with solid and liquid components was seen in the upper and anterior part of the thorax (arrow).
Figure 2
Figure 2
Gross features of mediastinal teratoma (blue arrow) at autopsy: the tumor was located underneath the thymus (star) and above the heart.
Figure 3
Figure 3
Dissected appearance of the teratoma: a pinkish solid, but soft nodule with cystic areas.
Figure 4
Figure 4
Histology of mature components of the neoplasia: endodermal elements with respiratory cilitaed epithelium (blue arrow) and glands (top right of the picture). Cartilage (mesoderm) was also present (star). (Hematoxylin Eosin (HE) staining 10×).
Figure 5
Figure 5
Immature elements of the tumor: neuroectodermal structures with ependymal rosettes (HE staining 20×).
Figure 6
Figure 6
Tumor karyotype: female asset of 46,XX.
See this image and copyright information in PMC

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