Tubal histopathological abnormalities in BRCA1/2 mutation carriers undergoing prophylactic salpingo-oophorectomy: a case-control study.

Autor:	Sina F; Department of Surgery, Gynecological Surgery Unit, San Gerardo Hospital, Monza, Lombardia, Italy., Cassani C; Gynecology Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Lombardia, Italy., Comerio C; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy., De Ponti E; Department of Physical Medicine, San Gerardo Hospital, Monza, Italy., Zanellini F; Gynecology Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Lombardia, Italy., Delle Marchette M; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy., Roversi G; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy.; Department of Pathology, Unit of Genetics, San Gerardo Hospital, Monza, Italy., Jaconi M; Department of Pathology, San Gerardo Hospital, Monza, Lombardia, Italy., Arbustini E; Center for Inherited Cardiovascular Disease, Fondazione IRCCS Policlinico San Matteo, Pavia, Lombardia, Italy., Urtis M; Center for Inherited Cardiovascular Disease, Fondazione IRCCS Policlinico San Matteo, Pavia, Lombardia, Italy.; Department of Industrial and Information Engineering, University of Pavia, Pavia, Italy., Dell'Oro C; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy., Zambetti B; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy., Paniga C; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy., Acampora E; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy., Negri S; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy., Lazzarin S; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy., Cesari S; Pathology Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Lombardia, Italy., Spinillo A; Gynecology Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Lombardia, Italy., Kotsopoulos J; Women's College Research Institute, Women's College Hospital, Toronto, Ontario, Canada.; Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada., Fruscio R; Department of Surgery, Gynecological Surgery Unit, San Gerardo Hospital, Monza, Lombardia, Italy robert.fruscio@unimib.it.; Department of Medicine and Surgery, University of Milan-Bicocca, Milan, Lombardia, Italy.
Jazyk:	angličtina
Zdroj:	International journal of gynecological cancer : official journal of the International Gynecological Cancer Society [Int J Gynecol Cancer] 2022 Jan; Vol. 32 (1), pp. 41-47. Date of Electronic Publication: 2021 Nov 29.
DOI:	10.1136/ijgc-2021-003153
Abstrakt:	Objective: To describe tubal histopathological abnormalities in women with germline BRCA1/2 mutations and in controls. Methods: Consecutive women with BRCA1/2 mutations undergoing bilateral salpingo-oophorectomy between 2010 and 2020 in two centers (San Gerardo Hospital, Monza and San Matteo Hospital, Pavia) were considered in this analysis and compared with controls who had the same surgical procedure for benign conditions. Frequency of p53 signature, serous tubal intraepithelial carcinoma, and high-grade serous ovarian cancer were compared between the two groups. Results: A total of 194 women with pathogenic BRCA1/2 mutations underwent prophylactic salpingo-oophorectomy. Of these, 138 women (71%) had a completely negative histological examination, while in 56 (29%) patients an ovarian or tubal alteration was reported. Among controls, 84% of patients had a p53wt signature, while 16% had a p53 signature. There was no difference in the frequency of a p53 signature between cases and controls; however, women with BRCA1/2 mutations were more likely to have pre-malignant or invasive alterations of tubal or ovarian epithelium (p=0.015). Among mutation carriers, older age both at genetic testing and at surgery was associated with an increased risk of having malignancies (OR=1.07, p=0.006 and OR=1.08, p=0.004, respectively). The risk of malignancy seems to be increased in patients with a familial history of high-grade serous ovarian cancer. Previous therapy with tamoxifen was significantly more frequent in patients with malignant lesions (40.0% vs 21.3%, p=0.006). Conclusion: We found that a p53 signature is a frequent finding both in BRCA1/2 mutation carriers and in controls, while pre-invasive and invasive lesions are more frequent in BRCA1/2 mutation carriers. Genetic and clinical characteristics are likely to affect the progression to malignancy. Competing Interests: Competing interests: None declared. (© IGCS and ESGO 2022. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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