Shrebati Adnan, Loap Pierre, Kirova Youlia
Department of Radiation Oncology, Institut Curie, 75005 Paris, France.
Cancers (Basel). 2025 Apr 1;17(7):1206. doi: 10.3390/cancers17071206.
: Li-Fraumeni syndrome (LFS) is a disease caused by a germline mutation of the tp53 gene that predisposes the individual to various malignancies, including breast cancer. Its impact on treatment modalities in oncology remains poorly studied. In this critical review, we aimed to retrieve and analyze available data concerning adjuvant radiotherapy in early breast cancer for LFS patients, as well as the current guidelines. : We reviewed articles with LFS patient cohorts that reported secondary malignancy rates after breast adjuvant radiotherapy. Rates of recurrence, when available, were also included. Furthermore, we discussed contemporary radiobiological evidence and guidelines on the subject. : Six retrospective studies were reviewed. Five reported much higher rates of secondary malignancies compared to the general population. Additionally, there was no clear trend toward increased locoregional control after adjuvant radiotherapy. Radiobiological data suggest increased radioresistance and radiosensitivity within p53-mutated cells. Guidelines recommend avoiding radiotherapy in LFS patients when possible. : Currently, there is no standard treatment or cure for LFS or a germline variant of the TP53 gene. With few exceptions, cancers in people with LFS are treated the same way as cancers in other patients, but research continues into the best way to manage cancers involved in LFS.
李-弗劳梅尼综合征（LFS）是一种由tp53基因种系突变引起的疾病，使个体易患包括乳腺癌在内的各种恶性肿瘤。其对肿瘤学治疗方式的影响仍研究不足。在这篇批判性综述中，我们旨在检索和分析有关LFS患者早期乳腺癌辅助放疗的现有数据以及当前指南。
我们回顾了有LFS患者队列的文章，这些文章报告了乳腺癌辅助放疗后的二次恶性肿瘤发生率。如有可用的复发率也包括在内。此外，我们讨论了关于该主题的当代放射生物学证据和指南。
回顾了六项回顾性研究。五项研究报告二次恶性肿瘤发生率比一般人群高得多。此外，辅助放疗后局部区域控制改善并无明显趋势。放射生物学数据表明p53突变细胞内存在放射抗性增加和放射敏感性增加的情况。指南建议尽可能避免对LFS患者进行放疗。
目前，对于LFS或TP53基因种系变异没有标准治疗方法或治愈方法。除少数例外，LFS患者的癌症治疗方式与其他患者的癌症相同，但关于LFS相关癌症的最佳管理方法的研究仍在继续。
