Li-Fraumeni综合征（LFS）是一种罕见的常染色体显性家族性癌症综合征，由肿瘤蛋白p53基因（TP53）种系突变引起，该基因编码p53转录因子，也被称为“基因组的守护者”。 LFS 家族中最常见的癌症类型包括肉瘤、白血病、乳腺癌、脑肿瘤和肾上腺皮质癌。骨肉瘤和横纹肌肉瘤是最常见的肉瘤。 LFS 患者患早发性胃癌和结肠癌的风险增加。他们患甲状腺、肺癌、卵巢和皮肤等其他几种癌症的风险也增加。 LFS 患者终生罹患癌症的风险在男性中高于 70%，在女性中高于 90%。一些 LFS 患者在其一生中会患上多种原发性癌症，并且已经制定了筛查这些患者的指南。全身 MRI 是这些患者年度筛查的首选方式。 LFS 患者的管理指南各不相同，因为这些人更容易患上放射诱发的癌症，例如，患有 LFS 和乳腺癌的女性接受全乳房切除术，而不是乳房肿瘤切除术和放射治疗。作者回顾了影像学、影像学指南和肿瘤影像学特征在 LFS 中的作用。 ©RSNA，2024 本文提供了补充材料。

Li-Fraumeni syndrome (LFS) is a rare autosomal dominant familial cancer syndrome caused by germline mutations of the tumor protein p53 gene (TP53), which encodes the p53 transcription factor, also known as the "guardian of the genome." The most common types of cancer found in families with LFS include sarcomas, leukemia, breast malignancies, brain tumors, and adrenocortical cancers. Osteosarcoma and rhabdomyosarcoma are the most common sarcomas. Patients with LFS are at increased risk of developing early-onset gastric and colon cancers. They are also at increased risk for several other cancers involving the thyroid, lungs, ovaries, and skin. The lifetime risk of cancer in individuals with LFS is greater than 70% in males and greater than 90% in females. Some patients with LFS develop multiple primary cancers during their lifetime, and guidelines have been established for screening these patients. Whole-body MRI is the preferred modality for annual screening of these patients. The management guidelines for patients with LFS vary, as these individuals are more susceptible to developing radiation-induced cancers-for example, women with LFS and breast cancer are treated with total mastectomy instead of lumpectomy with radiation to the breast. The authors review the role of imaging, imaging guidelines, and imaging features of tumors in the setting of LFS. ©RSNA, 2024 Supplemental material is available for this article.