Novel karyotypic changes detected by comparative genomic hybridization in a case of congenital cervical immature teratoma

Miliaras, Dimosthenis; Grimbizis, Grigoris; Conroy, Jeffrey M.; Psarra, Natasha; Miliaras, S.; Nowak, Norma J.; Bontis, J.

doi:10.1002/bdra.20152

Cited by 8 publications

(13 citation statements)

References 32 publications

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“…In particular, Gli2 and Gli3 are regulated much like Ci, becoming repressors or activators, depending on levels of Hh. The Rdx ortholog SPOP lies in 17q21.33, a chromosomal region that has been linked with ovarian cancer and cervical immature teratoma (Bernardini et al, 2005;Miliaras et al, 2005). Future studies will determine whether the Rdx orthologs SPOP or LOC339745 modulate Gli levels and Hh-mediated responses, and even contribute to cancer.…”

Section: Developmentmentioning

confidence: 99%

Roadkill attenuates Hedgehog responses through degradation of Cubitus interruptus

2006

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The final step in Hedgehog (Hh) signal transduction is post-translational regulation of the transcription factor, Cubitus interruptus (Ci). Ci resides in the cytoplasm in a latent form, where Hh regulates its processing into a transcriptional repressor or its nuclear access as a transcriptional activator. Levels of latent Ci are controlled by degradation, with different pathways activated in response to different levels of Hh. Here, we describe the roadkill (rdx) gene, which is expressed in response to Hh. The Rdx protein belongs to a conserved family of proteins that serve as substrate adaptors for Cullin3-mediated ubiquitylation. Overexpression of rdx reduced Ci levels and decreased both transcriptional activation and repression mediated by Ci. Loss of rdx allowed excessive accumulation of Ci. rdx manipulation in the eye revealed a novel role for Hh in the organization and survival of pigment and cone cells. These studies identify rdx as a limiting factor in a feedback loop that attenuates Hh responses through reducing levels of Ci. The existence of human orthologs for Rdx raises the possibility that this novel feedback loop also modulates Hh responses in humans.

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Section: Developmentmentioning

confidence: 99%

Roadkill attenuates Hedgehog responses through degradation of Cubitus interruptus

2006

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“…Speculations regarding probable genetic changes on comparative genomic hybridizations are being sought and they include 1p21.1 amplification, 9p22 deletion, and 17q21.33 1-copy gain. [3] Associated malformations include imperforate anus, Chondrodystrophia fetalis, hypoplastic left ventricle with pulmonary hypoplasia, cystic fibrosis, absence of corpus callosum, and arachanoid cyst, though very rare.…”

Section: Discussionmentioning

confidence: 99%

A huge immature cervical teratoma; Antenatal diagnosis, and its management - An unusual entity

et al. 2013

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Cervical teratomas are not reported quite frequently in medical literature, especially from Indian subcontinent. Prenatal diagnosis of this condition is even rarer, making the management protocols difficult. In absence of prompt intervention in the form of airway decompression, morbidity and mortality is very high. Presented here is the case of antenatal diagnosed cervical mass, which was managed successfully in immediate post-natal period with uneventful survival and normalized tumor marker levels.

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“…Teratomas are usually benign neoplasms with an incidence of about 1 in 40,000 births. 1,2 When mature and cystic, they have a smorgasbord of features that include hair, fat, bone, and brain tissue to name just a few. Remarkably, one study reported a retroperitoneal teratoma containing two fetuses in a 5-day-old girl.…”

Section: Introductionmentioning

confidence: 99%

“…4,5 Malignant teratomas are generally solid neoplasms that have a high mortality if left untreated. 2,5 These neoplasms are classified as germinal, non-germinal, or immature metastatic. 4 Their origin is not completely understood; however it is suggested that they do not arise simply from a metaplastic process.…”

Section: Introductionmentioning

confidence: 99%

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Cytopathologic findings in an immature cystic teratoma: Report of an unusual case

Balco

Burroughs

Ali

2007

Diagnostic Cytopathology

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Teratomas are uncommon, usually benign tumors often found in young women. We describe the cytopathology of an unusual case of a large congenital teratoma in a 6-day-old girl. The patient initially showed signs of abdominal distention and a follow-up ultrasound and computerized-tomography (CT) revealed a cystic mass in the pelvis. An ultrasound-guided fine-needle aspiration (FNA) showed small round blue cells suspicious for a primitive neuronal tumor. Resection of the mass displayed a cystic teratoma with distinct nests of small round blue cells representing immature neuroepithelial and glial tissue. Also noted were admixed mature elements of a cystic teratoma. Cytologic finding of a small round blue cell tumor, therefore, was the immature component of the teratoma. This case illustrates the difficulties in diagnosing teratomas due to their extraordinary diversity.

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Novel karyotypic changes detected by comparative genomic hybridization in a case of congenital cervical immature teratoma

Abstract: None of the identified chromosomal aberrations have been previously associated with congenital extragonadal teratomas. Important genes that lie in these DNA regions may be implicated in the pathogenesis of congenital teratomas.

Cited by 8 publications

References 32 publications

Roadkill attenuates Hedgehog responses through degradation of Cubitus interruptus

Roadkill attenuates Hedgehog responses through degradation of Cubitus interruptus

A huge immature cervical teratoma; Antenatal diagnosis, and its management - An unusual entity

Cytopathologic findings in an immature cystic teratoma: Report of an unusual case

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