Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report
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Primary fallopian tube carcinoma (PFTC) in a BRIP-1 mutation carrier: the first case report Giovanni Grandi1,4 · Martina Caroli1 · Carlo Alboni1 · Laura Cortesi2 · Angela Toss2 · Elena Barbieri2 · Laura Botticelli3 · Fabio Facchinetti1 Received: 5 March 2020 / Accepted: 20 April 2020 © Springer Nature B.V. 2020
Abstract Some hereditary ovarian cancer cases can be associated with a mutation of a gene involved in the DNA double-strand break repair system other than BRCA, such as BRIP1. This mutation is an emerging indication for prophylactic risk-reducing salpingo-oophorectomy (RRSO): however, anomalous tubal pathologic lesions have not yet been reported during RRSO performed for this specific indication (BRIP1), as largely reported for BRCA mutation carriers.An asymptomatic 64-year-old woman with a family history of ovarian and breast cancer agreed to undergo RRSO for a pathogenic variant of the BRIP1 gene (heterozygous NM_032043.2: c.124delT, p. Cys42Valfs) with normal BRCA genes. Histological examination showed the presence of high-grade serous carcinoma of the fimbria of the right tube of a maximum diameter of 0.4 cm (final FIGO stage IIB).The pathogenic mechanism that leads to the development of high-grade serous ovarian/fallopian tube cancer in patients with mutations of BRIP1 should be the same as for patients with mutations of BRCA1 and 2. Our case confirms to consider BRIP1 mutation to be sufficient to justify RRSO at 45–50 years old. Keywords BRIP1 · Risk-reducing salpingo-oophorectomy · Hereditary ovarian cancer · Primary carcinoma of the fallopian tube · BRCAness · Double-strand break repair
Introduction Primary carcinoma of the fallopian tube is a rare tumour, accounting for only 0.3–1.1% of all gynaecologic cancers [1]. In 2014, the International Federation of Obstetrics and Gynaecology (FIGO) updated a staging system that was * Giovanni Grandi [email protected] 1
Department of Medical and Surgical Sciences for Mother, Child and Adult, Azienda Ospedaliero Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124 Modena, Italy
2
Department of Oncology, Haematology and Respiratory Disease, Azienda Ospedaliero‑ Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124 Modena, Italy
3
Department of Pathology, Azienda Ospedaliero‑Universitaria Policlinico, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124 Modena, Italy
4
Azienda Ospedaliero‑ Universitaria Policlinico, Obstetrics and Gynaecology Unit, University of Modena and Reggio Emilia, Via del Pozzo 71, 41124 Modena, Italy
based on an assumed similarity between the behaviours of cancers of the fallopian tube, the peritoneum and the ovary [2]. Approximately 25% of OCs are related to an inherited genetic predisposition. Mutations for the oncosuppressor BRCA1 and 2 genes are the most well-known to be linked to a higher incidence of ovarian and breast cancer, in around 70–80% of hereditary ovarian cancer cases [3]. In another
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