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.
Department of Radiology, University of Modena and Reggio Emilia, Via del Pozzo 71, Modena, Italy.
Menopause. 2021 Nov 1;29(1):63-72. doi: 10.1097/GME.0000000000001883.
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.
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.
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).
Different diagnostic tools must integrate to ensure early diagnosis of OC in BRCA mutation carriers adhering to a follow-up program.
大约 25%的卵巢癌（OC）病例与遗传易感性有关。BRCA1 和 2 肿瘤抑制基因的遗传突变与 OC 和乳腺癌的发病率较高有最密切的联系，在大约 70%至 80%的遗传性 OC 病例中。本研究旨在提供对一组年轻 BRCA 携带者和拒绝接受预防性输卵管卵巢切除术的携带者进行 6 年监测期间，筛查发现的 OC（SD-OC）的全面临床描述。
这是一项在大学医院进行的前瞻性队列研究，描述了 191 名携带 BRCA1 和 2 突变的女性在 2015 年至 2020 年间连续接受监测，包括每 6 个月通过专门的专家进行一次癌症抗原 125（CA 125）评估，并同时进行经阴道超声（TVUS）检查。主要结局为肿瘤的侧别、诊断时的 CA 125、TVUS 和计算机断层扫描（CT）结果。
在研究期间，58/191（30.4%）名突变携带者进行了预防性输卵管卵巢切除术（发现 1 例 OC 病例）。在其余 133 名女性中发现了 9 例 SD-OC 和 0 例间隔性 OC。OC（FIGO 分期 I 或 II：88.9%）主要发生在 BRCA1（77.8%）中，BRCA1 中 85.7%为双侧，BRCA2 中 100%为单侧。没有仅累及输卵管的病变：左卵巢/输卵管更常受累。我们描述了三种关于影像学的新的可能情况：1）明显病例（33.3%，TVUS 和 CT 对 OC 明显，CA 125 敏感性：100%），2）可能病例（55.6%，TVUS 和 CT 通常一致，记录新的 TVUS 征象：卵巢实质增强模式伴周边皮质小囊肿、卵巢附近低回声环形肿块、卵巢内小高回声灶），3）隐匿性病例（11.1%，病变最小，但分期最高（IIIA2），CA 125 为 44.2 U/mL，同时伴有子宫内膜增生）。
不同的诊断工具必须整合，以确保在遵循随访计划的 BRCA 突变携带者中早期诊断 OC。
