The challenging screen detection of ovarian cancer in BRCA mutation carriers adhering to a 6-month follow-up program: results from a 6-years surveillance

Giovanni Grandi; Federica Fiocchi; Laura Cortesi; Angela Toss; Fausto Boselli; Margaret Sammarini; Giovanna Sighinolfi; Fabio Facchinetti

doi:10.1097/GME.0000000000001883

The challenging screen detection of ovarian cancer in BRCA mutation carriers adhering to a 6-month follow-up program: results from a 6-years surveillance

Menopause. 2021 Nov 1;29(1):63-72. doi: 10.1097/GME.0000000000001883.

Authors

Giovanni Grandi¹, Federica Fiocchi², Laura Cortesi³, Angela Toss^{3

4}, Fausto Boselli¹, Margaret Sammarini¹, Giovanna Sighinolfi¹, Fabio Facchinetti¹

Affiliations

¹ Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Azienda Ospedaliero-Universitaria di Modena, Via del Pozzo 71, Modena, Italy.
² Department of Radiology, University of Modena and Reggio Emilia, Via del Pozzo 71, Modena, Italy.
³ Department of Oncology and Haematology, Azienda Ospedaliero-Universitaria di Modena, Via del Pozzo 71, Modena, Italy.
⁴ Department of Surgery, Medicine, Dentistry and Morphological Sciences with Transplant Surgery, Oncology and Regenerative Medicine Relevance, University of Modena and Reggio Emilia, Via del Pozzo 71, Modena, Italy.

PMID: 34726192
DOI: 10.1097/GME.0000000000001883

Abstract

Objective: Approximately 25% of ovarian cancer (OC) cases are related to an inherited predisposition. Genetic mutations for the oncosuppressor genes BRCA1 and 2 have the best-known linkage to a higher incidence of OC and breast cancer, in approximately 70% to 80% of hereditary OC cases. To provide the first comprehensive clinical description of screen-detected (SD) OCs during a 6-years surveillance of a cohort of young BRCA carriers and carriers who refuse risk-reducing salpingo-oophorectomy.

Methods: A prospective cohort study in a university hospital describing 191 women with BRCA1 and 2 mutations adhering continuously to our surveillance between 2015 and 2020, including a 6-monthly evaluation of cancer antigen 125 (CA 125) with concomitant transvaginal ultrasound (TVUS) performed by a dedicated specialist. Main outcomes were tumor's laterality, CA 125 at diagnosis, TVUS and computed tomography (CT) findings.

Results: Risk-reducing salpingo-oophorectomy was performed in 58/191 (30.4%) of mutation carriers during the study period (one OC case identified). Nine SD-OCs and no interval OCs were found in the remaining 133 women. OCs (FIGO stage I or II: 88.9%) occur mainly in BRCA 1 (77.8%), being bilateral in 85.7% BRCA 1 and unilateral in 100% BRCA 2. No lesions involved only the tubes: left ovaries/tubes were more frequently involved. We have described three new possible scenarios regarding imaging: 1) Evident cases (33.3%, TVUS and CT obvious for OC, CA 125 sensitivity: 100%), 2) Possible cases (55.6%, TVUS and CT are in general accordance, documenting new TVUS signs: increased solid pattern of the ovary with peripheral cortical small cysts, hypoechoic circular mass near the ovary, intraparenchymal small hyperechoic foci), and 3) Hidden cases (11.1%, the smallest lesion but the highest stage (IIIA2), with CA 125 44.2 U/mL and concomitant endometrial hyperplasia).

Conclusions: Different diagnostic tools must integrate to ensure early diagnosis of OC in BRCA mutation carriers adhering to a follow-up program.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Breast Neoplasms* / diagnostic imaging
Breast Neoplasms* / genetics
Female
Follow-Up Studies
Genes, BRCA2
Genetic Predisposition to Disease
Humans
Mutation
Ovarian Neoplasms* / diagnostic imaging
Ovarian Neoplasms* / genetics
Prospective Studies