Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis

Lymphangioleiomyomatosis (LAM) is a rare, slowly progressive pulmonary disease causing cystic lung destruction and respiratory failure. It affects predominantly premenopausal women, and rarely men. It can occur as a sporadic condition (sporadic LAM) or in association with tuberous sclerosis complex (TSC) [1]. LAM is caused by biallelic inactivation of the tumour suppressor gene TSC2 in LAM cells, which leads to hyperactivation of mammalian target of rapamycin complex (mTORC)1, resulting in anabolism and LAM cell proliferation [2]. Sirolimus and everolimus, mTORC1 allosteric inhibitors, have been shown to retard progression of LAM [3].

Source: European Respiratory Journal - October 9, 2019 Category: Respiratory Medicine Authors: Ogorek, B., Hamieh, L., Lasseter, K., Bagwe, S., Machado, T., Herranz-Ors, C., Thorner, A. R., Nag, A., Gulleman, P., Giannikou, K., Young, L. R., Pujana, M. A., Darling, T. N., El-Chemaly, S., Moss, J., Henske, E. P., Kwiatkowski, D. J. Tags: Original Articles: Research letters Source Type: research