Li-Fraumeni syndrome (LFS) is an inherited cancer syndrome, characterized by an early onset of various types of cancers. LFS is associated with a germline mutation in the TP53 gene. The risk of developing skin cancer in patients with LFS is unknown. To evaluate the cumulative risk of skin cancer in patients with LFS and to compare this risk to the general Dutch population. In this retrospective cohort study, all proven TP53 mutation carriers in the Netherlands Cancer Institute were included from their first visit to the Institute until June 2017. Medical charts and pathology reviews cross-referenced with PALGA, the nationwide network and registry of histo- and cytopathology were used to identify incident skin cancers. Cumulative risks were calculated by Kaplan–Meier analysis. Seventy-one patients (59% female) from 33 families were included. Ten patients (14%) developed a total of 19 skin cancers at a median age of 41 (25–65) years. The cumulative risk of skin cancer is 10.4% (95% CI 4.4–23.5%) at age 40, 25.2% (95% CI 12.3–47.6%) at age 60, and a at age 70 this risk is 44.6% (95% CI 22.9–73.9%). The cumulative risks of melanoma and basal cell carcinoma at age 70 are increased compared to the general Dutch population, namely 12.6% (95% CI 3.6–38.4%) and 34.6% (95% CI 15.4–66.2%), respectively. Patients with LFS have an increased risk of developing skin cancer. A dermatological consultation may be considered at least once in individuals with LFS to raise awareness for skin cancer and inform about risk factors.

中文翻译：

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Li-Fraumeni综合征患者的皮肤癌累积风险。

Li-Fraumeni综合征（LFS）是一种遗传性癌症综合征，其特征是各种类型的癌症都较早发作。LFS与TP53基因的种系突变有关。LFS患者发生皮肤癌的风险尚不清楚。评估LFS患者皮肤癌的累积风险，并将该风险与荷兰一般人群进行比较。在这项回顾性队列研究中，所有经过验证的TP53从首次访问荷兰癌症研究所到2017年6月，他们都被纳入了突变携带者。与PALGA，全国性网络以及组织病理学和细胞病理学注册资料交叉引用的医学图表和病理学检查被用来鉴定事件性皮肤癌。累积风险通过Kaplan-Meier分析计算。包括来自33个家庭的71位患者（女性占59％）。十名患者（14％）在中位年龄为41岁（25-65岁）时共发展了19种皮肤癌。40岁时皮肤癌的累积风险为10.4％（95％CI 4.4–23.5％），60岁时为25.2％（95％CI 12.3–47.6％），而70岁时此风险为44.6％（95％） CI 22.9–73.9％）。与荷兰普通人群相比，70岁时黑色素瘤和基底细胞癌的累积风险增加，分别为12.6％（95％CI 3.6–38.4％）和34。分别为6％（95％CI 15.4-66.2％）。LFS患者患皮肤癌的风险增加。LFS患者至少应考虑进行一次皮肤科咨询，以提高对皮肤癌的认识并告知危险因素。