经过降低风险的乳腺切除术的病原性生殖系变体携带者间偶发性乳腺癌和前体病变的发生率
Jenny Katharina Wagner1, Florence Leinhos2, Catarina Alisa Kunze3
1HBOC-Center, Department of Gynecology with Breast Center, Charité - Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Berlin, Germany; Jenny-katharina.wagner@charite.de.
高危女性的乳房切除术很少显示出前体病变. 通过监测和成像进行早期检测对于患有病原性生殖系变异的妇女至关重要.
科学领域:
- 癌症学
- 遗传学
- 病理学
背景情况:
- 对于经过降低风险的乳腺切除术的BRCA1/ 2,PALB2和CHEK2变体载体的前体病变的研究有限.
- 需要关注B3病变,管道内癌 (DCIS) 和高风险组的侵袭性病变.
研究的目的:
- 确定前体,前侵袭性和侵袭性病变的流行率和组织病理特征.
- 分析这些病变与遗传,人口和放射性因素相关.
主要方法:
- 对169名经过降低风险的乳腺切除术 (RRM) 的女性进行了回顾性单中心队列研究.
- 在BRCA1/2,PALB2和CHEK2中具有病原性生殖系变异的妇女的分析.
- 在2014年至2021年期间在柏林慈善大学收集的数据.
主要成果:
- 在RRM后发现的前体病变 (6. 5%) 和侵袭前/侵袭性病变 (1. 8%) 的低患病率.
- 平面上皮缺陷 (FEA) 是最常见的前体病变.
- 只有两个侵袭性乳腺癌病例被确定,这两种病例都发生在没有手术前MRI的患者中.
结论:
- 严格的监测和高级成像对于高风险女性的早期检测至关重要.
- 跨学科的咨询和最佳的RRM时间可以帮助预防疾病的进展.
- 需要进一步的研究来完善这些人的管理策略.
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