尽管李-法美尼综合征 (LFS) 肿瘤具有可通过早期影像学检测来利用的癌前或休眠期，但文献中对此进行了低估。我们提出了一系列 LFS 患者的病例系列，随后进行随时间的成像，以突出该人群中肿瘤的生长模式和遗漏肿瘤的热点。在一家三级儿科中心对 1999 年至 2023 年间发生的 24 名种系 TP53 致病性变异携带者的 29 个肿瘤的临床和影像学特征进行了回顾性审查。通过 MRI、CT 和 X 光片评估肿瘤的影像学特征。评估了局部侵袭、发生原发性癌症的时间间隔、和/或复发性疾病和转移以及延迟肿瘤诊断的因素。在患有多发肿瘤的患者中，第一、第二和第三原发癌发生的中位时间间隔分别为 45.9、79.8 和 28.1 个月。漏诊的肿瘤热点包括浅表软组织、靠近骨骼的区域、头皮上、肾上腺区域周围的组织以及脑部 CT 上的小低密度病变。总之，LFS 患者的肿瘤生长模式是多变且不稳定的，其中一些肿瘤呈现休眠模式。版权所有 © 2024 Wolters Kluwer Health, Inc. 保留所有权利。

Although tumors of Li-Fraumeni syndrome (LFS) have a premalignant or dormant phase that could be exploited by early imaging detection, this has been underevaluated in the literature. We present a case series of patients with LFS followed by imaging over time to highlight patterns of growth of tumors and hotspots of missed tumors in this population. Clinical and imaging features were available for 29 tumors of 24 carriers of a germline TP53 pathogenic variant, developed between 1999 and 2023 were retrospectively reviewed in a single tertiary pediatric center. Imaging characteristics of tumors were evaluated with MRI, CT, and radiographs. Local invasion, time interval for developing primary cancer, and/or recurrent disease and metastasis, and factors that delayed the tumor diagnosis were assessed. In patients with multiple tumors the median time intervals for development of first, second, and third primary cancers were 45.9, 79.8, and 28.1 months, respectively. Hotspots of missed tumors included superficial soft tissues, areas close to bones, on the scalp, in tissues around the adrenal region and in small hypodense lesions on brain CT. In conclusion, the pattern of growth of tumors is variable and erratic in LFS patients with some tumors presenting with a dormant pattern.Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.