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• W2112339107 abstract "Lymphangiomyomatosis (LAM) is a life-threatening lung disease affecting almost exclusively young women. Histologically, LAM is characterized by the diffuse, bilateral proliferation of abnormal smooth muscle cells and cystic degeneration of the lung parenchyma. LAM can occur as an isolated disorder (sporadic LAM), or in women with tuberous sclerosis complex (TSC-LAM). Patients with both sporadic LAM and TSC-LAM often have benign renal angiomyolipomas. The smooth muscle cells within the angiomyolipomas are very similar to the smooth muscle cells in pulmonary LAM. Genetic data suggest that pulmonary LAM is the result of a highly unusual disease mechanism: the metastasis of benign cells. If LAM is the result of metastasis, it is remarkable that the metastasis occurs in women, but not in men. In this review, I discuss the genetic data supporting this metastatic model for LAM. The implications of the model for the functions of the TSC1 and TSC2 gene products, hamartin and tuberin, respectively, will also be considered. Hamartin and tuberin may play functional roles in the suppression of cell migration and/or metastasis, possibly through their regulation of the small GTPase Rho." @default.
• W2112339107 created "2016-06-24" @default.
• W2112339107 creator A5068118983 @default.
• W2112339107 date "2003-10-14" @default.
• W2112339107 modified "2023-10-16" @default.
• W2112339107 title "Metastasis of benign tumor cells in tuberous sclerosis complex" @default.
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• W2112339107 doi "https://doi.org/10.1002/gcc.10252" @default.
• W2112339107 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14566858" @default.
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