Cervical and oral teratoma in the fetus: A systematic review of etiology, pathology, diagnosis, treatment and prognosis

Division of Obstetrics and Gynecology, Guastalla Civil Hospital, AUSL Reggio Emilia, Guastalla, Italy.
Archives of Gynecology (Impact Factor: 1.36). 10/2010; 282(4):355-61. DOI: 10.1007/s00404-010-1500-7
Source: PubMed


The aim of the study was to produce a systematic review about etiology, pathology, diagnosis, prognosis and clinical management regarding oral and cervical teratomas.
A systematic review of Pubmed/Medline using the following keywords was made: epignathus, cervical teratoma, fetus, oral teratoma, prenatal diagnosis, prognosis, treatment, ultrasound.
The following clinical conclusions can be reached: (1) teratomas are rare, usually benign congenital tumors which recognized multifactorial etiology; (2) prenatal ultrasound diagnosis can be made early in pregnancy (15-16 weeks); (3) 3D ultrasound and MRI may enhance the accuracy of the antenatal diagnosis (location, extension and intracranial spread) and may aid in the selection of patients requiring treatment; (4) prenatal karyotype and search for associated abnormalities is mandatory in all teratomas; (5) delivery should involve elective Cesarean section with ex utero intrapartum treatment procedure or resection of the tumor mass, which may be performed on placental support operation on placental support procedure to increase the chances of postnatal survival.

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Available from: Gabriele Tonni, Jun 27, 2014
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    • "An interesting feature in our proband is the presence of a midline cervical mature teratoma. The incidence of teratomas may range from 1 of 20,000 to 1 of 200,000 live births (Tonni et al., 2010). Histologically, teratomas are GCTs that contain elements of all three germ layers derived from ectoderm, mesoderm, and endoderm with predominance of the neural elements as also indicated by histologic analysis of the proband's teratoma tissue (Gundry et al., 1983; Jordan and Gauderer, 1988; Hasiotou et al., 2004; Tonni et al., 2010). "
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    ABSTRACT: BACKGROUND Cat-Eye syndrome (CES) with teratoma has not been previously reported. We present the clinical and molecular findings of a 9-month-old girl with features of CES and also a palpable midline neck mass proved to be an extragonadal mature teratoma, additionally characterized by array comparative genomic hybridization (aCGH). RESULTS High resolution oligonucleotide-based aCGH confirmed that the supernumerary marker chromosome (SMC) derived from chromosome 22, as was indicated by molecular cytogenetic analysis with fluorescence in situ hybridization (FISH). Additionally, aCGH clarified the size, breakpoints, and gene content of the duplication (dup 22q11.1q11.21; size:1.6 Mb; breakpoints: 15,438,946-17,041,773; hg18). The teratoma tissue was also tested with aCGH, in which the CES duplication was not found, but the analysis revealed three aberrations: del Xp22.3 (108,864-2788,689; 2.7 Mb hg18), dup Yp11.2 (6688,491-7340,982; 0.65 Mb, hg18), and dup Yq11.2q11.23 (12,570,853-27,177,133; 14.61 Mb, hg18). These results indicated 46 XY (male) karyotype of the teratoma tissue, making this the second report of mature extragonadal teratoma in a female neonate, probably deriving from an included dizygotic twin of opposite sex (fetus in fetu). CONCLUSIONS Our findings extend the phenotypic spectrum of CES syndrome, a disorder with clinical variability, pointing out specific dosage-sensitive genes that might contribute to specific phenotypic features.
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    ABSTRACT: We report the diagnosis of a congenital oral fibrovascular hamartoma with two- and three-dimensional ultrasound. The distinctive sonographic features including the fibrovascular stalk and a single vascular pedicle are described. Prenatal magnetic resonance imaging and postnatal computed tomography confirmed the ultrasound findings. Despite concerns about impaired swallowing, the prenatal and perinatal courses were straightforward. The lesion was removed soon after birth. Histopathology of the removed lesion provided the definitive diagnosis of a fibrovascular hamartoma and reported a cellular composition that differentiates it from similar lesions. To our knowledge, such a lesion has not been reported pre- or postnatally and provides an alternative differential diagnosis for a fetus presenting with a mouth mass.
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