1. 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
- Author
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Giovanna Sighinolfi, Angela Toss, Laura Cortesi, Giovanni Grandi, Fabio Facchinetti, Margaret Sammarini, Fausto Boselli, and Federica Fiocchi
- Subjects
medicine.medical_specialty ,General Mathematics ,Genes, BRCA2 ,Female ,Follow-Up Studies ,Genetic Predisposition to Disease ,Humans ,Mutation ,Prospective Studies ,Breast Neoplasms ,Ovarian Neoplasms ,Ovary ,Breast cancer ,Medicine ,Stage (cooking) ,Prospective cohort study ,Gynecology ,business.industry ,Applied Mathematics ,BRCA mutation ,Obstetrics and Gynecology ,medicine.disease ,BRCA2 ,Endometrial hyperplasia ,medicine.anatomical_structure ,Genes ,Concomitant ,business ,Ovarian cancer - 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.
- Published
- 2021