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• W3114342015 abstract ": Hereditary ovarian tumour syndromes •About 23% of ovarian cancers are associated with hereditary conditions. •High grade serous type in BRCA & Endometrioid type ovarian cancers in Lynch syndromes. •Sertoli-Leydig cell tumors in DICER1 & ovarian fibromas in Gorlin-Goltz syndromes. •Steroid cell tumor & papillary cystadenomas in VHL. •Small cell carcinoma of the hypercalcemic type in rhabdoid tumor syndromes. Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli–Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz–Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Gorlin–Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14–24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel–Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed. Hereditary ovarian tumour syndromes are a diverse group of hereditary syndromes characterised by the development of specific histotypes of ovarian neoplasms. While BRCA syndromes are exclusively associated with high-grade serous carcinomas, patients with Lynch syndrome show a preponderance of endometrioid subtype of ovarian and endometrial carcinomas. Distinct non-epithelial phenotypes, such as sex cord stromal tumours with annular tubules, Sertoli–Leydig cell tumours, and small cell carcinoma of the hypercalcaemic type occur in patients with Peutz–Jeghers, DICER1, and rhabdoid tumour predisposition syndromes, respectively. Gorlin–Goltz syndrome is characterised by the development of bilateral, multiple ovarian fibromas in 14–24% of patients. Ovarian steroid cell tumours and broad ligament papillary cystadenomas are characteristically found in women with von Hippel–Lindau syndrome. Recent studies have allowed the characterisation of tumour genetics and associated oncological pathways that contribute to tumourigenesis. Implications of the diagnosis of these syndromes on screening, management, and prognosis are discussed." @default.
• W3114342015 created "2021-01-05" @default.
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• W3114342015 date "2021-04-01" @default.
• W3114342015 modified "2023-09-27" @default.
• W3114342015 title "Hereditary ovarian tumour syndromes: current update on genetics and imaging" @default.
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• W3114342015 doi "https://doi.org/10.1016/j.crad.2020.11.116" @default.
• W3114342015 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33353730" @default.
• W3114342015 hasPublicationYear "2021" @default.
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