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遗传性乳腺癌易感基因患者中的 BIA-ALCL:我们的经验及文献复习。

BIA-ALCL in patients with genetic predisposition for breast cancer: our experience and a review of the literature.

机构信息

Department of Plastic and Reconstructive Surgery, European Institute of Oncology, IRCCS.

University of Milan, Milan.

出版信息

Eur J Cancer Prev. 2023 Jul 1;32(4):370-376. doi: 10.1097/CEJ.0000000000000809. Epub 2023 Jun 7.

Abstract

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is an emerging non-Hodgkin's lymphoma that occurs exclusively in patients with breast implants. The estimated risk of developing BIA-ALCL from exposure to breast implants is largely based on approximations about patients at risk. There is a growing body of evidence regarding the presence of specific germline mutations in patients developing BIA-ALCL, rising interest regarding possible markers of genetic predisposition to this type of lymphoma. The present paper focuses attention on BIA-ALCL in women with a genetic predisposition for breast cancer. We report our experience at the European Institute of Oncology, Milan, Italy, describing a case of BIA-ALCL in a BRCA1 mutation carrier who developed BIA-ALCL 5 years after implant-based post mastectomy reconstruction. She was treated successfully with an en-bloc capsulectomy. Additionally, we review the available literature on inherited genetic factors predisposing to the development of BIA-ALCL. In patients with genetic predisposition to breast cancer (mainly TP53 and BRCA1/2 germline mutations), BIA-ALCL prevalence seems to be higher and time to onset appears to be shorter in comparison to the general population. These high-risk patients are already included in close follow-up programs allowing the diagnosis of early-stage BIA-ALCL. For this reason, we do not believe that a different approach should be followed for postoperative surveillance.

摘要

乳房植入物相关间变性大细胞淋巴瘤(BIA-ALCL)是一种新兴的非霍奇金淋巴瘤,仅发生在乳房植入物的患者中。暴露于乳房植入物后发生 BIA-ALCL 的估计风险主要基于对风险患者的近似估计。越来越多的证据表明,在发生 BIA-ALCL 的患者中存在特定的种系突变,人们对这种淋巴瘤的遗传易感性的可能标志物越来越感兴趣。本文重点关注具有乳腺癌遗传易感性的女性中的 BIA-ALCL。我们报告了意大利米兰欧洲肿瘤研究所的经验,描述了一例 BRCA1 突变携带者在乳房切除术后基于植入物重建 5 年后发生 BIA-ALCL 的病例。她成功地接受了肿块切除术。此外,我们还回顾了关于易患 BIA-ALCL 的遗传性遗传因素的现有文献。在具有乳腺癌遗传易感性的患者(主要是 TP53 和 BRCA1/2 种系突变)中,与一般人群相比,BIA-ALCL 的患病率似乎更高,发病时间似乎更短。这些高风险患者已经纳入密切随访计划,允许早期诊断 BIA-ALCL。因此,我们认为术后监测不应采用不同的方法。

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