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BRCA 基因突变患者:是否存在其他卵巢癌发生的易患因素?一项多中心回顾性研究。

BRCA Mutation Patients: Are There Other Predisposing Factors for Ovarian Cancer Occurrence? A Multicenter Retrospective Study.

机构信息

S.S.D. Ginecologia Oncologica Clinicizzata, IRCCS Istituto Tumori "Giovanni Paolo II", Bari, Italy.

Dipartimento di Biomedicina Traslazionale e Neuroscienze (DiBraiN), University of Bari "Aldo Moro", Bari, Italy.

出版信息

Gynecol Obstet Invest. 2024;89(2):87-94. doi: 10.1159/000535012. Epub 2024 Jan 19.

DOI:10.1159/000535012
PMID:38246147
Abstract

OBJECTIVES

The objective of this multicenter retrospective study aimed to evaluate the association of clinical variables and the incidence of ovarian cancer in patients with BRCA 1-2 mutation carriers who underwent risk-reducing salpingo-oophorectomy (RRSO).

DESIGN

Patients with a pathogenic mutation of BRCA 1-2 genes and with no evidence of disease are considered eligible. The exclusion criterion was the refusal to undergo the surgery. The retrospective study included all RRSO performed from May 2015 to April 2022 in the three gynecological Institutions of Southern Italy for were included in this retrospective study.

PARTICIPANTS/MATERIALS, SETTING, METHODS: Age, menarche age, BMI, menopause at time of RRSO, breast cancer first- and second-degree relatives, ovarian cancer first- and second-degree relatives, estroprogestin use, pregnancy normal full-term delivery, history of endometriosis, previous breast cancer and histologic type, previous abdominal/pelvic surgery, BRCA 1 or BRCA 2 status, preoperative serum CA-125 levels (IU/mL), age at time of RRSO and histological analysis were collected.

RESULTS

184 were recruited. One was excluded. To assess cancer risk, the outcome variable was classified into three classes: no event, cancer, and other conditions excluding cancer. 14 women presented ovarian cancer and tubal intraepithelial carcinoma (STIC) on histopathologic final report. Ovarian cancer was found in 8 patients, whereas the presence of STIC was found in 6 of them.

LIMITATIONS

The low incidence of patients diagnosed with ovarian cancer or STIC compared with the total number of patients undergoing RRSO is a potential bias.

CONCLUSIONS

Our study did not demonstrate a correlation between clinical features and the occurrence of precancerous or cancerous lesions in BRCA mutation carrier patients.

摘要

目的

本多中心回顾性研究的目的是评估在接受 BRCA 1-2 基因突变携带者风险降低的输卵管卵巢切除术(RRSO)的患者中,临床变量与卵巢癌发生率的相关性。

设计

考虑具有 BRCA 1-2 基因致病性突变且无疾病证据的患者符合条件。排除标准是拒绝手术。这项回顾性研究纳入了 2015 年 5 月至 2022 年 4 月在意大利南部的三家妇科机构进行的所有 RRSO。

参与者/材料、地点、方法:年龄、初潮年龄、BMI、RRSO 时的绝经年龄、乳腺癌一级和二级亲属、卵巢癌一级和二级亲属、雌激素孕激素使用情况、正常足月妊娠、子宫内膜异位症史、先前的乳腺癌和组织学类型、先前的腹部/骨盆手术、BRCA 1 或 BRCA 2 状态、术前血清 CA-125 水平(IU/mL)、RRSO 时的年龄和组织学分析。

结果

共纳入 184 例患者,排除 1 例。为了评估癌症风险,将结局变量分为三类:无事件、癌症和癌症以外的其他情况。在组织病理学最终报告中,有 14 名女性患有卵巢癌和输卵管上皮内癌(STIC)。在 8 名患者中发现了卵巢癌,其中 6 名患者发现了 STIC。

局限性

与接受 RRSO 的患者总数相比,诊断为卵巢癌或 STIC 的患者数量较少,这可能是一个潜在的偏差。

结论

我们的研究没有显示 BRCA 基因突变携带者患者的临床特征与癌前或癌症病变的发生之间存在相关性。

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引用本文的文献

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