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BRCA 基因突变患者行预防性输卵管卵巢切除术的前瞻性多中心研究。

A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients.

机构信息

Obstetrics and Gynecology Unit, DIM Department, University of Bari, Italy.

Obstetrics and Gynecology Unit, Department of Biomedical Sciences and Human Oncology, University of Bari, Italy .

出版信息

Acta Biomed. 2022 Aug 31;93(4):e2022051. doi: 10.23750/abm.v93i4.11695.

DOI:10.23750/abm.v93i4.11695
PMID:36043985
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9534247/
Abstract

BACKGROUND AND AIM OF THE WORK

BRCA1/2 are tumour-suppressor genes involved in DNA homologous recombination and ovarian cancer development.  The study evaluated the risk of tumor cancer in women presenting the BRCA mutations.

METHODS

Risk-reducing surgery (RRS) was performed in 100 patients carrying BRCA1 (aged between 30-73 years, median age was 51 years) and BRCA 2 mutation (aged between 36-70 years, median age was 53 years). Fifty-eight patients had previous history of breast cancer.

RESULTS

Between the 100 patients, 82 women underwent risk-reducing salpingo-oophorectomy (RRSO) through a laparoscopic minimally invasive approach, 7 (7 %) underwent laparoscopic RRSO and contextual hysterectomy, 1 woman (1 %) underwent RRSO through a laparotomic approach and 10 women (10 %) laparotomic RRSO and hysterectomy. During 5 (5 %) laparoscopic RRSO, prophylactic bilateral mastectomy was also performed. Early and late complication occurred in 3 patients (3 %). Two patients (2 %) were found to have occult Serous Tubal Intraepithelial Carcinoma (STIC) and three patients (3 %) occult cancer.

CONCLUSIONS

RRSO is safe and feasible in BRCA mutation carriers. The procedure is effective for genetic prevention of ovarian cancer.

摘要

背景与目的

BRCA1/2 是参与 DNA 同源重组和卵巢癌发展的肿瘤抑制基因。本研究评估了携带 BRCA 突变的女性患肿瘤癌症的风险。

方法

对 100 名携带 BRCA1(年龄 30-73 岁,中位年龄 51 岁)和 BRCA2 突变(年龄 36-70 岁,中位年龄 53 岁)的患者进行了降低风险的手术(RRS)。58 例患者有乳腺癌病史。

结果

在 100 名患者中,82 名女性通过腹腔镜微创途径进行了风险降低的输卵管卵巢切除术(RRSO),7 名(7%)女性通过腹腔镜 RRSO 和子宫切除术,1 名女性(1%)通过剖腹手术进行 RRSO,10 名女性(10%)进行剖腹 RRSO 和子宫切除术。在 5 例(5%)腹腔镜 RRSO 中,还预防性地进行了双侧乳房切除术。3 名患者(3%)出现早期和晚期并发症。2 名患者(2%)发现有隐匿性输卵管上皮内癌(STIC),3 名患者(3%)发现隐匿性癌症。

结论

RRSO 在 BRCA 突变携带者中是安全且可行的。该手术对于卵巢癌的遗传预防是有效的。

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