■已知PALB2中的遗传种系突变会使患者患乳腺癌的风险更高,到80岁时,超过一半的受影响女性患乳腺癌的风险估计为卵巢癌和胰腺癌。目前筛查PALB2突变患者的指南包括从30岁开始的年度乳房X光检查,并考虑乳房磁共振成像(MRI)和断层合成。关于乳房切除术降低风险的现有证据不足以为患者提供明确的建议。在这个系列中,我们描述了5例伴PALB2突变的单侧乳腺癌患者的表现和治疗.据我们所知,这是首次报道的病例系列,讨论了对侧降低风险乳房切除术(CRRM)在PALB2突变乳腺癌患者中的作用.我们研究的目的是通过现实世界的临床病例和文献综述来评估PALB2致病性变异患者在管理乳腺癌风险方面的挑战。
■在这项回顾性观察研究中,我们介绍了5例年龄在29~61岁之间的PALB2突变患者,他们在2020年11月至2022年3月期间被诊断为乳腺癌并在我们机构接受了乳腺癌手术治疗.通过他们的临床课程和文献综述,我们讨论了CRRM在PALB2基因突变的乳腺癌患者中的作用。
■在5名患者中,3例患者接受CRRM,2例患者选择单侧手术治疗乳腺癌,并积极监测对侧乳腺。在接受CRRM的3名患者中,1例患者经历了预防侧重建的手术并发症。没有患者出现任何复发,平均随访时间为15.4个月。
■根据我们的经验和现有文献,PALB2突变患者的CRRM应通过考虑总体风险的共同决策过程逐案进行。家族史,患者偏好和生活质量。
UNASSIGNED: Inherited germline mutations in PALB2 are known to predispose patients to a higher risk of breast, ovarian and pancreatic cancer with an estimated risk of developing breast cancer in over half of all affected women by age 80 years. Current guidelines for screening patients with PALB2 mutations include annual mammograms beginning at age 30 years and consideration of breast magnetic resonance imaging (MRI) and tomosynthesis. Existing evidence regarding risk-reducing surgery with
mastectomy is insufficient to make a definitive recommendation to patients. In this
case series, we describe the presentation and management of 5 patients with unilateral breast cancer and PALB2 mutations. To our knowledge, this is the first reported
case series discussing the role of contralateral risk-reducing
mastectomy (CRRM) in breast cancer patients with PALB2 mutations. The aim of our study was to evaluate the challenges in managing breast cancer risk in patients with PALB2 pathogenic variants with illustration through real-world clinical cases and a review of the literature.
UNASSIGNED: In this retrospective observational study, we present 5 patients with PALB2 mutations between the ages of 29 and 61 years who were diagnosed with breast cancer and underwent surgical management of their breast cancer at our institution between November 2020 and March 2022. Through their clinical courses and a literature review, we discuss the role of CRRM in breast cancer patients with PALB2 gene mutations.
UNASSIGNED: Out of the 5 patients, 3 patients underwent CRRM and 2 patients chose unilateral surgery for their breast cancer and active surveillance for the contralateral breast. Of the 3 patients who underwent CRRM, 1 patient experienced a surgical complication from reconstruction on the prophylactic side. None of the patients developed any recurrences with an average length of follow up of 15.4 months.
UNASSIGNED: Based on our experience and the currently available literature, CRRM in patients with a PALB2 mutation should be performed on a
case-by-
case basis through a shared decision-making process taking into consideration overall risk, family history, patient preference and quality of life.