Management of Familial Ovarian Teratoma: The Need for Guidance

Braungart, Sarah; McCullagh, Majella

doi:10.1055/s-0036-1593832

Cited by 6 publications

(8 citation statements)

References 12 publications

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“…Elevations in AFP and HCG are considered features of a malignant GCT, but in a case of OMT, these tumor markers are usually normal (14,15). An elevation in AFP was observed in five cases in our series and may be related to the presence of a small immature teratoma or a differentiated liver component (3,23).…”

Section: Discussionmentioning

confidence: 60%

“…This incidence is certainly higher, as the questioning for familial history is not systematic and information on this is difficult to retrieve. To date, no specific germinal gene pathogenic variant background has ever been documented in such families, as in our cohort (15,35,36).…”

Section: Discussionmentioning

confidence: 85%

“…The challenge for the decision-making process is that malignant nonsecreting GCTs, such as dysgerminoma or, less frequently, sex-cord stromal tumors, such as granulosa juvenile cell tumors, may present similar features to those of OMTs. Tumor markers (alpha-fetoprotein (AFP), human chorionic gonadotropin (HCG), inhibin B, anti-Müllerian hormone (AMH), calcemia) and hormonal dosages in cases of pseudopuberty or dysmenorrhea are key to ruling out malignant lesions (3,12,14,15). In case of doubt, upfront total oophorectomy (TO) is a secure option, avoiding any spillage of an unrecognized malignant component and avoiding recurrence due to incomplete resection after OSS (14).…”

Section: Introductionmentioning

confidence: 99%

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Lessons From a Large Nationwide Study of 350 Children With Ovarian Mature Teratoma: A Plea for Ovarian-Sparing Surgery

Delehaye

Sarnacki²,

Orbach

et al. 2021

Preprint

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Objective Ovarian mature teratoma (OMT) is a common ovarian tumor found in the pediatric population. In 10% to 20% of cases, OMT occurs as multiple synchronous or metachronous lesions on ipsi- or contralateral ovaries. Ovarian sparing surgery (OSS) is recommended to preserve fertility, but total oophorectomy (TO) is still performed. This study reviews the clinical data of patients with OMT, and analyzes risk factors for second events. Design A retrospective review of all girls under 18 years of age with OMTs was performed. Data on clinical features, imaging, laboratory studies, surgical reports, follow-up second events and their management were retrieved. Results Overall, 350 children were identified. Eighteen patients (5%) presented with a synchronous bilateral form at diagnosis. Surgery was performed by laparotomy (85%) and laparoscopy (15%). OSS and TO were performed in 59% and 41% of cases respectively. Perioperative tumor rupture occurred in 23 cases, independently of the surgical approach. Twenty-nine second events occurred (8.3%) in a median time of 30.5 months from diagnosis (ipsilateral: 8 cases including one malignant tumor, contralateral: 18 cases, both ovaries: 3 cases). A large palpable mass, bilateral forms at diagnosis and perioperative rupture had a statistical impact on the risk of second event, whereas type of surgery or approach did not. Conclusion This study is a plea in favor of OSS as the first choice of treatment of OMT when possible. Close follow-up during the first five years is mandatory considering the risk of 8.3% of second events especially in cases with risk factors.

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Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 85%

Section: Introductionmentioning

confidence: 99%

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Lessons From a Large Nationwide Study of 350 Children With Ovarian Mature Teratoma: A Plea for Ovarian-Sparing Surgery

Delehaye

Sarnacki²,

Orbach

et al. 2021

Preprint

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“…Type I originates from a primary oocyte that fails to undergo MI; type II originates from a secondary oocyte that fails to undergo MII; type III from an ovum that undergoes endoreduplication; type IV originates from an oogonium that does not undergo meiosis (premeiotic), and type V from two ova that fuse together . Familial cases of MOTs are very rare and to date, ∼10 familial cases have been described . All reported cases display a dominant mode of inheritance, and there are no genes known to cause, or predispose to, MOTs in humans.…”

Section: Discussionmentioning

confidence: 99%

Recurrent triploid digynic conceptions and mature ovarian teratomas: Are they different manifestations of the same genetic defect?

Khawajkie

Buckett

Nguyen

et al. 2017

Genes Chromosomes & Cancer

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Miscarriages affect 15% of clinically recognized pregnancies. Recurrent miscarriage (RM) is defined by the occurrence of at least two consecutive pregnancy losses and affects 1%-5% of couples trying to conceive. In an attempt to categorize patients with RM and identify the mechanisms leading to their miscarriages, we first used flow cytometry to assess the ploidy of 93 products of conception (POCs) from 53 patients with RM (≥3 miscarriages). We identified a single patient with four triploid POCs. We then used fluorescent in situ hybridization to confirm the triploidies and fluorescent microsatellite genotyping with distal and pericentromeric markers to determine their parental origin and the mechanisms leading to their formation. We found that all four triploidies were digynic and due to a failure in meiosis II (MII), suggesting a genetic predisposition. Upon further investigation into the family, we found a remarkable history of ovarian cysts and dysfunctions on the maternal side. Notably, one maternal cousin had a mature ovarian teratoma that we analyzed and found an identical mechanism at its origin, a failure in MII. The identification of two patients in the same family with two different manifestations-digynic triploid conceptions and mature ovarian teratomas, both resulting from the failure of MII-suggests an inherited genetic susceptibility toward an error in MII segregating in the family that may manifest in the form of a triploid digynic miscarriage or a mature ovarian teratoma. Our findings may facilitate the future identification of causative mutations for MII defects.

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“…The challenge for the decision‐making process is that malignant nonsecreting GCTs, such as dysgerminoma or, less frequently, sex‐cord stromal tumors, such as granulosa juvenile cell tumors, may present similar features to those of OMTs. Tumor markers (alpha‐fetoprotein [AFP], human chorionic gonadotropin [HCG], inhibin B, anti‐Müllerian hormone [AMH], calcemia) and hormonal dosages in cases of pseudopuberty or dysmenorrhea are arguments to ruling out malignant lesions 3,12,14,15 . In case of doubt, upfront total oophorectomy (TO) is a secure option, avoiding any spillage of an unrecognized malignant component and recurrence due to incomplete resection after ovarian‐sparing surgery (OSS) 14 .…”

Section: Introductionmentioning

confidence: 99%

Lessons from a large nationwide cohort of 350 children with ovarian mature teratoma: A study in favor of ovarian‐sparing surgery

Delehaye

Sarnacki

Orbach

et al. 2021

Pediatric Blood & Cancer

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Background Ovarian mature teratoma (OMT) is a common ovarian tumor found in the pediatric population. In 10%–20% of cases, OMT occurs as multiple synchronous or metachronous lesions on ipsi‐ or contralateral ovaries. Ovarian‐sparing surgery (OSS) is recommended to preserve fertility, but total oophorectomy (TO) is still performed. Design This study reviews the clinical data of patients with OMT, and analyzes risk factors for second events. A national retrospective review of girls under 18 years of age with OMTs was performed. Data on clinical features, imaging, laboratory studies, surgical reports, second events and their management were retrieved. Results Overall, 350 children were included. Eighteen patients (5%) presented with a synchronous bilateral form at diagnosis. Surgery was performed by laparotomy (85%) and laparoscopy (15%). OSS and TO were performed in 59% and 41% of cases, respectively. Perioperative tumor rupture occurred in 23 cases, independently of the surgical approach. Twenty‐nine second events occurred (8.3%) in a median time of 30.5 months from diagnosis (ipsilateral: eight cases including one malignant tumor; contralateral: 18 cases; both ovaries: three cases). A large palpable mass, bilateral forms, at diagnosis and perioperative rupture had a statistical impact on the risk of second event, whereas the type of surgery or approach did not. Conclusion This study is a plea in favor of OSS as the first‐choice treatment of OMT when possible. Close follow‐up during the first 5 years is mandatory considering the risk of 8.3% of second events, especially in cases with risk factors.

show abstract

Management of Familial Ovarian Teratoma: The Need for Guidance

Cited by 6 publications

References 12 publications

Lessons From a Large Nationwide Study of 350 Children With Ovarian Mature Teratoma: A Plea for Ovarian-Sparing Surgery

Lessons From a Large Nationwide Study of 350 Children With Ovarian Mature Teratoma: A Plea for Ovarian-Sparing Surgery

Recurrent triploid digynic conceptions and mature ovarian teratomas: Are they different manifestations of the same genetic defect?

Lessons from a large nationwide cohort of 350 children with ovarian mature teratoma: A study in favor of ovarian‐sparing surgery

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