结节性硬化症 (TSC) 是一种罕见的常染色体显性遗传疾病，影响多个器官系统。 TSC1和TSC2基因的突变导致哺乳动物雷帕霉素靶点（mTOR）通路的组成性过度激活，导致多个器官中良性肿瘤或错构瘤的生长。由于 mTOR 通路失调在疾病病理学中的作用，越来越多的证据支持使用 mTOR 抑制剂来治疗 TSC 的多种表现。在这项研究中，我们对 38 例诊断为结节性硬化症的患者的临床结果和治疗数据进行了回顾性分析2010 年至 2020 年间在儿科肿瘤诊所进行随访的患者。我们收集了患者的年龄、性别、受影响部位、家族史、影像学表现、肿瘤存在情况和治疗等信息。在患者中，有 9 名出现 TSC 表现的患者用 mTOR 抑制剂治疗。具体来说，依维莫司已成功治疗五名患有先天性心脏横纹肌瘤并导致血流动力学障碍的患者。此外，两名难治性癫痫患者接受依维莫司联合抗癫痫药物治疗。一名肾血管平滑肌脂肪瘤大于 3 厘米的患者接受依维莫司治疗，而一名患有广泛面部血管纤维瘤的患者则接受局部西罗莫司治疗。所有患者对 mTOR 抑制剂的耐受性良好，并且副作用被认为是可以接受的。 mTOR 抑制剂在 TSC 中的应用预计将在临床实践中变得更加普遍，因为目前的研究预计将有助于更好地了解这些治疗的治疗作用in TSC.© 2023。作者获得 Springer-Verlag GmbH 德国（Springer Nature 旗下公司）的独家许可。

Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder that affects multiple organ systems. Mutations in the TSC1 and TSC2 genes result in the constitutive hyperactivation of the mammalian target of rapamycin (mTOR) pathway, contributing to the growth of benign tumors or hamartomas in various organs. Due to the implication of mTOR pathway dysregulation in the disease pathology, increasing evidence supports the use of mTOR inhibitors for treating multiple manifestations of TSC.In this study, we conducted a retrospective analysis of clinical findings and treatment data from 38 patients diagnosed with tuberous sclerosis who were followed up in the Pediatric Oncology Clinic between 2010 and 2020. We collected information on patients' ages, genders, affected sites, familial history, imaging findings, presence of tumors, and treatments.Among the patients, nine individuals with TSC manifestations were treated with mTOR inhibitors. Specifically, everolimus was successfully administered to five patients with inborn cardiac rhabdomyoma causing hemodynamic impairment. In addition, two patients with refractory seizures received everolimus in combination with anti-epileptic drugs. A patient with renal angiomyolipomas larger than 3 cm was treated with everolimus, while a patient with extensive facial angiofibroma received topical sirolimus. All patients tolerated the mTOR inhibitors well, and the side effects were deemed acceptable.The utilization of mTOR inhibition in TSC is expected to become more prevalent in clinical practice, as current research is anticipated to provide a better understanding of the therapeutic roles of these treatments in TSC.© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.