PDF(Pubmed)
Abstract：
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, TSC1 and TSC2. Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC. Although not being a tumor, progressive overgrowth of the affected limb may cause cosmetic and functional problems, for which the efficacy of mTOR inhibitors has not been reported previously. We herein report a case of TSC-associated hemihypertrophy. In this case, genetic studies revealed TSC1 loss of heterozygosity as the cause of hemihypertrophy. Clinically, pharmacological treatment with an mTOR inhibitor sirolimus successfully ameliorated cosmetic and functional problems with no intolerable adverse effects.
摘要：
结节性硬化症（TSC）是由两个肿瘤抑制基因之一的突变引起的常染色体显性疾病，TSC1和TSC2。由于哺乳动物雷帕霉素靶蛋白（mTOR）途径的活性失调，错构瘤或良性肿瘤经常发生在许多器官中，并且通常用mTOR抑制剂治疗。半肥大是TSC的罕见并发症。虽然不是肿瘤，受影响肢体的进行性过度生长可能会导致美容和功能问题，以前没有报道过mTOR抑制剂的疗效。我们在此报告一例TSC相关的半肥大。在这种情况下,遗传研究显示TSC1杂合性缺失是半肥大的原因。临床上,使用mTOR抑制剂西罗莫司的药物治疗成功地改善了美容和功能问题,没有不可耐受的不良反应.
