淋巴管肌瘤病：从分子研究到靶向治疗

Lymphangioleiomyomatosis:from molecular research to target therapy

淋巴管肌瘤病(LAM)是一种罕见的肺部疾病,分为散发性LAM(s LAM)和结节性硬化症相关LAM(TSC-LAM)两种,主要见于育龄女性,以肺部囊性病变和血管肌脂瘤或淋巴管肌瘤等腹部肿瘤为主要表现。其发病机制为LAM细胞发生TSC基因突变,导致哺乳动物西罗莫司(雷帕霉素)靶蛋白激酶(m TOR)异常活化,从而致病。m TOR通路在LAM发病中的重要作用推动了m TOR抑制剂(如西罗莫司等)在其治疗中的应用。本文简述了LAM的发病机制,并综述了m TOR抑制剂在LAM治疗中的临床研究进展。

Lymphangioleiomyomatosis（LAM）,which primarily affects women,is a rare lung disease characterized by diffuse cystic lesion and abdominal tumor（angiomyolipoma or lymphangioleiomyomas）. It has two forms,sporadic LAM（s LAM）and tuberous sclerosis complex associated LAM（TSC-LAM）. The mutations in the TSC genes on LAM cells lead to inappropriate activation of mammalian target of sirolimns（Rapamycin）kinase（m TOR）,which causes the development of LAM. The important role of m TOR pathway in the mechanism of LAM promotes the clinical use of m TOR inhibitors（such as sirolimns）in LAM patients. This article summarizes the mechanisms of LAM and reviews the clinical trials with m TOR inhibitors in LAM patients.