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遗传性乳腺癌的外科治疗:保乳手术的作用

Surgical Management of Inherited Breast Cancer: Role of Breast-Conserving Surgery.

作者信息

Magnoni Francesca, Sacchini Virgilio, Veronesi Paolo, Bianchi Beatrice, Bottazzoli Elisa, Tagliaferri Valentina, Mazzotta Erica, Castelnovo Giulia, Deguidi Giulia, Rossi Elisabetta Maria Cristina, Corso Giovanni

机构信息

Division of Breast Surgery, IEO European Institute of Oncology, IRCCS, 20041 Milan, Italy.

Breast Service, Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

出版信息

Cancers (Basel). 2022 Jul 1;14(13):3245. doi: 10.3390/cancers14133245.

Abstract

Recent studies have demonstrated that hereditary breast cancer (BC) has a prevalence of 5-10% among all BC diagnoses. Nowadays, significant technological advances in the identification of an increasingly broad spectrum of genetic mutations allow for the discovery of an ever-growing number of inherited pathogenic (P) or likely pathogenic (LP) variants of breast cancer susceptibility genes. As the management of BC patients carrying mutations in the genes or other high-penetrance genes is currently a challenge, extensive research is being carried out and a lively scientific debate has been taking place on what the most appropriate local therapy, especially surgical treatment, of patients with inherited BC should be. In many studies, BC outcomes in carriers and non-carriers have been compared. A number of them showed that, when compared with mastectomy, breast-conserving surgery in patients is oncologically safe in terms of overall survival, although an increased risk of ipsilateral recurrence was reported. In these patients, devising a specific therapeutic strategy is an inevitably complex process, as it must take into consideration a series of factors, require a multimodal approach, guarantee personalization, strictly adhere to scientific international guidelines, and consider all available evidence. The present narrative review purposes to identify and illustrate evidence from significant selected studies that discussed those issues, as well as to suggest useful tools to clinicians managing this specific clinical condition in daily clinical practice.

摘要

最近的研究表明,遗传性乳腺癌(BC)在所有乳腺癌诊断病例中的患病率为5%-10%。如今,在识别越来越广泛的基因突变方面取得了重大技术进展,这使得人们发现了越来越多的乳腺癌易感基因的遗传性致病(P)或可能致病(LP)变异。由于目前对携带这些基因或其他高穿透性基因变异的乳腺癌患者进行管理是一项挑战,因此正在进行广泛的研究,并且就遗传性乳腺癌患者最合适的局部治疗,尤其是手术治疗应该是什么展开了激烈的科学辩论。在许多研究中,对携带基因突变的患者和未携带基因突变的患者的乳腺癌治疗结果进行了比较。其中一些研究表明,与乳房切除术相比,保乳手术对携带基因突变的患者来说,就总生存期而言在肿瘤学上是安全的,尽管有报道称同侧复发风险增加。在这些患者中,制定具体的治疗策略是一个不可避免的复杂过程,因为它必须考虑一系列因素,需要采用多模式方法,保证个性化,严格遵守国际科学指南,并考虑所有可用证据。本叙述性综述旨在识别和阐述来自重要选定研究的证据,这些研究讨论了上述问题,并为临床医生在日常临床实践中管理这种特定临床情况提供有用的工具。

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