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

Abstract

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.

Zusammenfassung

Abhängig von dessen Lage, Größe und Nähe zu den Herzstrukturen kann ein intraperikardiales Teratom zu schwerwiegenden Kreislaufstörungen und sogar zum Tod des Fetus führen. Eine 34-jährige G2P1 stellte sich in der 20+5 SSW mit einer soliden zystischen rechts-thorakalen Raumforderung beim Fetus vor, sonographisch vom rechten Herzvorhof oder der Lunge ausgehend. Ein im Verlauf progredienter Hydrops mündete bald darauf in einen intrauterinen Fruchttod. Eine ausführliche postmortale Autopsie zeigte Zeichen eines generalisierten Hydrops fetalis aufgrund einer kugelförmigen von der Aortenwurzel ausgehenden Tumormasse. Die histologische Untersuchung des Tumors zeigte die charakteristische Morphologie eines Teratoms. Ein 1,6-Mb-Mikrodeletion am 3q29 wurde durch ein Einzel-Nukleotid-Polymorphismus-Array identifiziert. Dies ist der erste Fallbericht, der die Diagnose eines intraperikardialen Teratoms bei einem Fetus mit einer Mikrodeletion von 3q29 präsentiert. Das intraperikardiale Teratom hat eine schlechte Prognose und das fetale Outcome hängt von der Entwicklung von Hydrops ab. Eine postmortale Untersuchung ist unerlässlich, um eine definitive Diagnose zu stellen, was die Bedeutung des Fetalpathologen und die Notwendigkeit interdisziplinärer Zusammenarbeit unterstreicht.

Keywords

intrapericardial teratoma - fetal mediastinal teratoma - 3q29 microdeletion - fetal pathology

Schlüsselwörter

intraperikardiales Teratom - fetales mediastinales Teratom - 3q29-Mikrodeletion - Fetalpathologie

Publication History

Received: 12 February 2024

Accepted after revision: 02 July 2024

Article published online:
20 August 2024

• References

• 1 Kamil D, Tepelmann J, Berg C. et al. Spectrum and outcome of prenatally diagnosed fetal tumors. Ultrasound Obstet Gynecol 2008; 31: 296-302
• 2 Bonasoni MP, Comitini G, Barbieri V. et al. Fetal presentation of mediastinal immature teratoma: ultrasound, autopsy and cytogenetic findings. Diagnostics 2021; 11: 1543
• 3 Simonini C, Strizek B, Berg C. et al. Fetal teratomas – A retrospective observational single-center study. Prenatal Diagnosis 2021; 41: 301-307
• 4 Froberg MK, Brown RE, Maylock J. et al. In utero development of a mediastinal teratoma: a second-trimester event. Prenat Diagn 1994; 14: 884-887
• 5 Tapper D, Lack EE. Teratomas in infancy and childhood. A 54-year experience at the Children's Hospital Medical Center. Ann Surg 1983; 198: 398-410
• 6 Yuan SM. Fetal intrapericardial teratomas: An Update. Z Geburtshilfe Neonatol 2020; 224: 187-193
• 7 Tollens M, Grab D, Lang D. et al. Pericardial teratoma: prenatal diagnosis and course. Fetal Diagn Ther 2003; 18: 432-436
• 8 Cavalcante CTMB, Pinto Júnior VC, Pompeu RG. et al. Early treatment of intrapericardial teratoma: a case presentation and systematic literature review. J Matern Fetal Neonatal Med 2019; 32: 2262-2268
• 9 Arisoy R, Erdogdu E, Kumru P. et al. Prenatal diagnosis and outcomes of fetal teratomas. J Clin Ultrasound 2016; 44: 118-125
• 10 El-Zaatari ZM, Ro JY. Mediastinal germ cell tumors: A review and update on pathologic, clinical, and molecular features. Adv Anat Pathol 2021; 28: 335-350
• 11 Enzensberger C, Kreymborg KG, Valeske K. et al. Management of idiopathic giant dilatation of the right atrium with subsequent atrial tachycardia. Arch Gynecol Obstet 2013; 288: 705-707
• 12 Nassr AA, Shazly SA, Morris SA. et al. Prenatal management of fetal intrapericardial teratoma: A systematic review. Prenat Diagn 2017; 37: 849-863
• 13 Rossi E, Piccini F, Zollino M. et al. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Gen 2001; 38: 417-420
• 14 Glassford MR, Rosenfeld JA, Freedman AA. et al. Novel features of 3q29 deletion syndrome: Results from the 3q29 registry. Am J Med Genet A 2016; 170: 999-1006
• 15 Cox DM, Butler MG. A clinical case report and literature review of the 3q29 microdeletion syndrome. Clin Dysmorphol 2015; 24: 89-94
• 16 Yue F, Deng S, Xi Q. et al. Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review. Medicine (Baltimore) 2021; 100: e24224
• 17 Mulle JG, Gambello MJ, Sanchez Russo R. et al. 3q29 Recurrent Deletion. In: Adam MP, Everman DB, Mirzaa GM et al., eds. GeneReviews((R)); Seattle (WA): 1993
• 18 Città S, Buono S, Greco D. et al. 3q29 microdeletion syndrome: Cognitive and behavioral phenotype in four patients. Am J Med Genet A 2013; 161: 3018-3022
• 19 Feng L, Emily CL, Elizabeth SW. et al. 3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition. European Journal of Medical Genetics 2009; 52: 349-352
• 20 Chirita Emandi A, Dobrescu AI, Doros G. et al. A novel 3q29 deletion in association with developmental delay and heart malformation–case report with literature review. Front Pediatr 2019; 7: 270
• 21 Lek M, Karczewski KJ, Minikel EV. et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016; 536: 285-291
• 22 Huang N, Lee I, Marcotte EM. et al. Characterising and predicting haploinsufficiency in the human genome. PLoS Genet 2010; 6: e1001154
• 23 Bandau S, Knebel A, Gage ZO. et al. UBXN7 docks on neddylated cullin complexes using its UIM motif and causes HIF1alpha accumulation. BMC Biol 2012; 10: 36
• 24 Tada H, Okano HJ, Takagi H. et al. Fbxo45, a novel ubiquitin ligase, regulates synaptic activity. J Biol Chem 2010; 285: 3840-3849
• 25 Marlin JW, Chang YW, Ober M. et al. Functional PAK-2 knockout and replacement with a caspase cleavage-deficient mutant in mice reveals differential requirements of full-length PAK-2 and caspase-activated PAK-2p34. Mamm Genome 2011; 22: 306-317
• 26 Kim EY, Zhang Y, Beketaev I. et al. SENP5, a SUMO isopeptidase, induces apoptosis and cardiomyopathy. J Mol Cell Cardiol 2015; 78: 154-164
• 27 Moser-Katz T, Gavile CM, Barwick BG. et al. PDZ Proteins SCRIB and DLG1 regulate myeloma cell surface CD86 expression, growth, and survival. Mol Cancer Res 2022; 20: 1122-1136
• 28 Cotter L, Ozcelik M, Jacob C. et al. Dlg1-PTEN interaction regulates myelin thickness to prevent damaging peripheral nerve overmyelination. Science 2010; 328: 1415-1418
• 29 Walters BA, Raff ML, Hoeve JV. et al. Spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Med Genet A 2004; 129a: 265-276
• 30 Nishijima Y, Hagiya Y, Kubo T. et al. RABL2 interacts with the intraflagellar transport-B complex and CEP19 and participates in ciliary assembly. Mol Biol Cell 2017; 28: 1652-1666