Department of Gynecology and Obstetrics, University Hospital Heidelberg, Heidelberg, Germany.
Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Cancer Med. 2021 Nov;10(21):7747-7758. doi: 10.1002/cam4.4300. Epub 2021 Sep 26.
Women with Li-Fraumeni syndrome (LFS) have elevated breast cancer (BC) risk. Optimal BC treatment strategies in this population are yet unknown.
BC subtypes and treatment were retrospectively investigated between December 2016 and January 2019 in a multicentre study. BC risks were evaluated according to the type of surgery.
Thirty-five women of our study population (35/44; 79.5%) had developed 36 breast lesions at first diagnosis at a mean age of 34 years. Those breast lesions comprised 32 invasive BCs (89%), three ductal carcinoma in situ alone (8%) and one malignant phyllodes tumour (3%). BCs were mainly high-grade (18/32), of no special type (NST; 31/32), HER2-enriched (11/32) or luminal-B-(like)-type (10/32). Affected women (n = 35) received breast-conserving surgery (BCS, n = 17) or a mastectomy (ME, n = 18) including seven women with simultaneous contralateral prophylactic mastectomy (CPM) at first diagnosis. Nineteen women suffered 20 breast or locoregional axillary lesions at second diagnosis with mean age of 36. Median time between first and second diagnosis was 57 months; median time to contra- and ipsilateral recurrence depended on surgical strategies (BCS: 46 vs. unilateral ME: 93 vs. bilateral ME > 140 months). Women with a primary treatment of solitaire therapeutic ME suffered from contralateral BC earlier compared to those with therapeutic ME and CPM (median: 93 vs. >140 months).
Aggressive BC subtypes occur among women with LFS. Surgical treatment, i.e. ME and CPM, may prolong time to a second BC diagnosis. Conclusion on long-term survival benefit is pending. Individual competing tumour risks and long-term outcomes need to be taken into consideration.
Li-Fraumeni 综合征（LFS）女性乳腺癌（BC）风险升高。该人群的最佳 BC 治疗策略尚不清楚。
在一项多中心研究中，回顾性调查了 2016 年 12 月至 2019 年 1 月期间的 BC 亚型和治疗方法。根据手术类型评估 BC 风险。
在我们的研究人群中，35 名女性（35/44；79.5%）在平均 34 岁时首次诊断时出现了 36 个乳腺病变。这些乳腺病变包括 32 例浸润性 BC（89%）、3 例单纯导管原位癌（8%）和 1 例恶性叶状肿瘤（3%）。BC 主要为高级别（18/32）、非特殊类型（NST；31/32）、HER2 富集（11/32）或 luminal-B-（like）型（10/32）。受影响的女性（n=35）接受了保乳手术（BCS，n=17）或乳房切除术（ME，n=18），其中 7 名女性在首次诊断时同时接受了对侧预防性乳房切除术（CPM）。19 名女性在第二次诊断时患有 20 个乳房或局部腋窝病变，平均年龄为 36 岁。首次和第二次诊断之间的中位时间为 57 个月；对侧和同侧复发的中位时间取决于手术策略（BCS：46 个月 vs. 单侧 ME：93 个月 vs. 双侧 ME>140 个月）。与接受单纯治疗性 ME 的女性相比，接受原发性治疗性 ME 和 CPM 的女性更早地出现对侧 BC（中位时间：93 个月 vs. >140 个月）。
LFS 女性中存在侵袭性 BC 亚型。手术治疗，即 ME 和 CPM，可能会延长第二次 BC 诊断的时间。关于长期生存获益的结论尚待确定。需要考虑个体的竞争肿瘤风险和长期结果。
