[HTML][HTML] Lymphangioleiomyomatosis—a wolf in sheep's clothing

EP Henske, FX McCormack - The Journal of clinical …, 2012 - Am Soc Clin Investig
The Journal of clinical investigation, 2012Am Soc Clin Investig
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 …
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.
The Journal of Clinical Investigation