TY - JOUR T1 - Generalised mosaicism for <em>TSC2</em> mutation in isolated lymphangioleiomyomatosis JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.00938-2019 VL - 54 IS - 4 SP - 1900938 AU - Barbara Ogórek AU - Lana Hamieh AU - Kathryn Lasseter AU - Shefali Bagwe AU - Tania Machado AU - Carmen Herranz-Ors AU - Aaron R. Thorner AU - Anwesha Nag AU - Peter Gulleman AU - Krinio Giannikou AU - Lisa R. Young AU - Miquel Àngel Pujana AU - Thomas N. Darling AU - Souheil El-Chemaly AU - Joel Moss AU - Elizabeth P. Henske AU - David J. Kwiatkowski Y1 - 2019/10/01 UR - http://erj.ersjournals.com/content/54/4/1900938.abstract N2 - 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].Analysis of plasma cell-free DNA from 61 sporadic lymphangioleiomyomatosis (LAM) patients identified generalised mosaicism for a TSC2 mutation in one, suggesting that some sporadic LAM patients are occult generalised mosaics for TSC2 mutations http://bit.ly/2yLr0LsWe would like to thank Karthik Karnik and Edward Kwiatkowski (Brigham and Women's Hospital, Boston, MA, USA) for their help with bioinformatic analysis. ER -