The genetic landscape of 87 ovarian germ cell tumors

Nieuwenhuysen, Els Van; Busschaert, Pieter; Neven, Patrick; Han, Sileny; Moerman, Philippe; Liontos, Michalis; Papaspirou, Maria; Kupryjańczyk, Jolanta; Høgdall, Claus; Høgdall, Estrid; Oaknin, Ana; García, Ángel; Mahner, Sven; Trillsch, Fabian; Cibula, David; Heitz, Florian; Concin, Nicole; Speiser, Paul; Salvesen, Helga B.; Sehouli, Jalid; Lambrechts, Diether; Vergote, Ignace

doi:10.1016/j.ygyno.2018.08.013

Cited by 50 publications

(68 citation statements)

References 34 publications

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“…PIK3CA mutations have been reported in urothelial papilloma cases [111]. PIK3CA gene amplification has been observed in recurrent ovarian cancer [112] and yolk sac tumors [113]. In addition, PIK3CA mutation was identified in 38% endometrial cancer samples [114].…”

Section: Association Of Pik3ca Genetic Mutations With Cervical Ovarimentioning

confidence: 99%

PIK3CA Gene Mutations in Solid Malignancies: Association with Clinicopathological Parameters and Prognosis

Alqahtani

Ayesh

Halawani

2019

Cancers

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Phosphoinositide kinases (PIKs) are a group of lipid kinases that are important upstream activators of various significant signaling pathways. Hyperactivation of the PI3K/AKT/mTOR pathways—either via mutations or genomic amplification—confers key oncogenic activity, essential for the development and progression of several solid tumors. Alterations in the PIK3CA gene are associated with poor prognosis of solid malignancies. Although the literature reports contradictory prognostic values of PIK3CA in aggressive cancers, most of the available data highlight the important role of PIK3CA mutation in mediating tumorigenesis via increased signaling of the PI3K/AKT/mTOR survival pathway. Several inhibitors of PI3K/AKT/mTOR pathways are investigated as potential therapeutic options in solid malignancies. This article reviews the role of PIK3CA mutations and inhibitors of PI3K/AKT/mTOR pathways in major cancer types and examines its association with clinicopathological parameters and prognosis.

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Section: Association Of Pik3ca Genetic Mutations With Cervical Ovarimentioning

confidence: 99%

PIK3CA Gene Mutations in Solid Malignancies: Association with Clinicopathological Parameters and Prognosis

Alqahtani

Ayesh

Halawani

2019

Cancers

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“…Similarly, in the paediatric community adjuvant treatment is not routinely offered for any ovarian IT. Pure immature teratomas in children have been shown to behave in an excellent manner, and at all ages they appear to show fewer DNA copy numbers than ‘malignant’ germ cell tumours and align more with mature teratomas …”

Section: Immature Teratomasmentioning

confidence: 99%

“…Pure immature teratomas in children have been shown to behave in an excellent manner, [38][39][40][41] and at all ages they appear to show fewer DNA copy numbers than 'malignant' germ cell tumours and align more with mature teratomas. 42,43 A B Figure 5. A, This typical ovarian 'immature teratoma' shows neuroepithelium mixed in an organoid fashion with other elements and glial tissue.…”

Section: Immature Teratomasmentioning

confidence: 99%

Ovarian germ cell tumour classification: views from the testis

et al. 2019

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The classification of ovarian germ cell tumours has remained unchanged for many years, while there have been considerable changes in the testicular classification. In recent years there has been concern about the overtreatment of clinical stage 1 testicular germ cell tumours with increasing use of surveillance for low‐risk disease. We outline here the current classification of germ cell tumours of the ovary with particular regard to treatment and outcome and highlight some areas which may cause confusion, particularly pertaining to immature teratomas and mixed germ cell tumours. We suggest that some minor changes to the classification, evidenced by a recent retrospective series by some of the authors, may lead to less adjuvant chemotherapy for immature teratomas and may obviate the need for the grading of immature teratomas, by aligning with testicular experience in pure post‐pubertal teratomas. Adoption of this will require retrospective and prospective re‐evaluation, but may avoid long‐term patient morbidity.

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“…Typically, PTEN mutations manifest as PTEN hamartoma tumor syndrome (PHTS) with an increased lifetime risk of cancers in breast, endometrium, thyroid, kidney, and colon with rare reported instances of ovarian cancer . However, PTEN and related pathway pathogenic variants have been reported in ovarian and testicular GCTs, and loss of PTEN expression has been recently demonstrated in clear cell adenocarcinoma—which was an unusual part of the histopathology of our patient's primary tumor. Discovery of a germline pathogenic PTEN variant alters our patient's management significantly insofar as she now requires additional surveillance for age‐appropriate PTEN ‐associated malignances as per NCCN Clinical Practice Guidelines in Oncology.…”

Section: Discussionmentioning

confidence: 84%

Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two‐year‐old female

Tullius

Shankar

Cole

et al. 2019

Pediatric Blood & Cancer

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Growing teratoma syndrome (GTS) is a condition in which mature teratoma with negative tumor markers arises at the site of a treated malignant germ cell tumor. Pathogenic variants in PTEN have been reported to cause autosomal dominant cancer predisposition syndromes and are associated with germ cell tumors. We report the association of a novel heterozygous pathogenic variant in PTEN and very early onset ovarian germ cell tumor complicated by GTS as well as overgrowth syndrome. This marks the youngest reported patient to have developed GTS following treatment of her primary malignant ovarian germ cell tumor.

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The genetic landscape of 87 ovarian germ cell tumors

Cited by 50 publications

References 34 publications

PIK3CA Gene Mutations in Solid Malignancies: Association with Clinicopathological Parameters and Prognosis

PIK3CA Gene Mutations in Solid Malignancies: Association with Clinicopathological Parameters and Prognosis

Ovarian germ cell tumour classification: views from the testis

Novel heterozygous mutation in the PTEN gene associated with ovarian germ cell tumor complicated by growing teratoma syndrome and overgrowth in a two‐year‐old female

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