Department of Pulmonary and Critical Care Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, People's Republic of China.
Rare Diseases Research Center, Chinese Academy of Medical Sciences, Beijing, People's Republic of China.
Semin Respir Crit Care Med. 2020 Apr;41(2):256-268. doi: 10.1055/s-0040-1702195. Epub 2020 Apr 12.
Lymphangioleiomyomatosis (LAM) is a slow albeit progressive rare neoplastic disease featured with diffuse thin-walled cysts in lungs and angiomyolipomas in kidneys. LAM affects almost exclusively women and has one of the strongest gender predispositions of any extragenital human disease. Two forms of LAM present clinically, sporadic (S-LAM) and tuberous sclerosis complex-associated (TSC-LAM). TSC is an autosomal dominant genetic multisystems neoplastic disease. A high prevalence of LAM can be detected in adult female TSC patients. Tremendous progress has been made in our understanding and management of this rare disease. Both LAM and TSC are or mutated diseases that result in overactivation of the mechanistic target of rapamycin (mTOR) pathway. Sirolimus, an mTOR inhibitor, has been approved for LAM treatment in the United States and many other countries. Therapies targeting female sex hormones have shown preclinical efficacy in animal and cell culture-based experiments, but have not been properly investigated clinically. In this review, we summarize current recommendations in the diagnosis and treatment of LAM.
淋巴管平滑肌瘤病（LAM）是一种缓慢但进行性的罕见肿瘤性疾病，其特征是肺部弥漫性薄壁囊肿和肾脏的血管平滑肌脂肪瘤。LAM 几乎仅影响女性，是任何外生殖器人类疾病中性别倾向最强的疾病之一。临床上有两种形式的 LAM，散发性（S-LAM）和结节性硬化症相关（TSC-LAM）。TSC 是一种常染色体显性遗传多系统肿瘤性疾病。在成年女性 TSC 患者中可以检测到很高的 LAM 患病率。在理解和治疗这种罕见疾病方面取得了巨大进展。LAM 和 TSC 都是 mTOR 通路过度激活的疾病，导致 mTOR 通路过度激活。雷帕霉素，一种 mTOR 抑制剂，已被批准用于美国和许多其他国家的 LAM 治疗。针对女性性激素的治疗方法在动物和基于细胞培养的实验中显示出了临床前疗效，但尚未在临床上进行适当研究。在这篇综述中，我们总结了 LAM 的诊断和治疗的当前建议。
