Hereditary ovarian tumour syndromes: current update on genetics and imaging.

Abstract:

: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.

journal_name

Clin Radiol

journal_title

Clinical radiology

authors

Shanbhogue KP,Prasad AS,Ucisik-Keser FE,Katabathina VS,Morani AC

doi

10.1016/j.crad.2020.11.116

subject

Has Abstract

pub_date

2020-12-19 00:00:00

eissn

0009-9260

issn

1365-229X

pii

S0009-9260(20)30605-X

pub_type

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