Lymphangioleiomyomatosis - a wolf in sheep's clothing
Lymphangioleiomyomatosis - a wolf in sheep's clothing
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DOI：
10.1172/jci58709
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发表时间：
2012-11-01
影响因子：
15.9
通讯作者：
McCormack, Francis X.
中科院分区：
文献类型：
--
作者：
Henske, Elizabeth P.;McCormack, Francis X.
淋巴管平滑肌瘤病（LAM）是一种罕见的女性进行性肺部疾病。 LAM 是由结节性硬化症基因突变引起的，导致 mTOR 复合物 1 信号网络激活。在过去的 11 年里，人们对 LAM 的理解以及将这些知识快速转化为有效疗法方面取得了显着进展。 LAM的致病机制反映了许多形式的人类癌症，包括突变、代谢重编程、不适当的生长和存活、通过血液和淋巴循环的转移、浸润/侵袭、性类固醇敏感性以及局部和远端组织破坏。然而，LAM 中转移、浸润和破坏肺部的平滑肌细胞来源不明，组织学外观无害，几乎没有增殖的证据。因此，LAM 是一种优雅的单基因肿瘤模型，无法归类为良性或恶性。
Lymphangioleiomyomatosis (LAM) is a rare progressive lung disease of women. LAM is caused by mutations in the tuberous sclerosis genes, resulting in activation of the mTOR complex 1 signaling network. Over the past 11 years, there has been remarkable progress in the understanding of LAM and rapid translation of this knowledge to an effective therapy. LAM pathogenic mechanisms mirror those of many forms of human cancer, including mutation, metabolic reprogramming, inappropriate growth and survival, metastasis via blood and lymphatic circulation, infiltration/invasion, sex steroid sensitivity, and local and remote tissue destruction. However, the smooth muscle cell that metastasizes, infiltrates, and destroys the lung in LAM arises from an unknown source and has an innocent histological appearance, with little evidence of proliferation. Thus, LAM is as an elegant, monogenic model of neoplasia, defying categorization as either benign or malignant.