To the Editor: Tuberous sclerosis is an autosomal dominant disordercharacterized by hamartomatous growths in many organs and causedby inherited mutations of the TSC1 or TSC2 gene. Acquired (somatic)mutations of either gene occur within pathologic cells in patientswith sporadic lymphangioleiomyomatosis. Renal angiomyolipomasoccur in both disorders, resulting in substantial morbidityand mortality.1 The proteins TSC1 and TSC2 regulate signalingthrough the mammalian target of rapamycin (mTOR) pathway tocontrol processes including growth, cell-cycle progression,apoptosis, and autophagy. Constitutive activation of mTOR andits downstream targets occurs in lesions associated with tuberoussclerosis or lymphangioleiomyomatosis, suggesting that mTOR. . . [Full Text of this Article]
Egan, J. J., Remund, K. F., Corris, P., Bissler, J. J., Young, L. R., McCormack, F. X.
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(2008). Sirolimus for Angiomyolipoma and Lymphangioleiomyomatosis. JWatch Neurology
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Paul, E., Thiele, E.
(2008). Efficacy of Sirolimus in Treating Tuberous Sclerosis and Lymphangioleiomyomatosis. NEJM
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