Extract
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].
Abstract
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/2yLr0Ls
Acknowledgements
We would like to thank Karthik Karnik and Edward Kwiatkowski (Brigham and Women's Hospital, Boston, MA, USA) for their help with bioinformatic analysis.
Footnotes
Support statement: This was work was supported by the The Engles Family LAM/TS Research Fund, National Institutes of Health (NIH)/NHLBI U01 HL131022, the LAM Foundation (L.R. Young), and the Intramural Research Program, NIH/NHLBI. Funding information for this article has been deposited with the Crossref Funder Registry.
Conflict of interest: B. Ogórek has nothing to disclose.
Conflict of interest: L Hamieh has nothing to disclose.
Conflict of interest: K. Lasseter has nothing to disclose.
Conflict of interest: S. Bagwe has nothing to disclose.
Conflict of interest: T. Machado has nothing to disclose.
Conflict of interest: C. Herranz-Ors has nothing to disclose.
Conflict of interest: A.R. Thorner has nothing to disclose.
Conflict of interest: A. Nag has nothing to disclose.
Conflict of interest: P. Gulleman has nothing to disclose.
Conflict of interest: K. Giannikou has nothing to disclose.
Conflict of interest: L.R. Young reports grants from The LAM Foundation during the conduct of the study. She has served a paediatric advisory board member for Boehringer Ingelheim and has received payment for authorship from UpToDate, outside the submitted work. In addition, she has a patent “VEGF-D in diagnosis of LAM” licensed to Cincinnati Children's (no personal royalties).
Conflict of interest: M.À. Pujana reports grants from Roche Pharma outside the submitted work.
Conflict of interest: T.N. Darling has nothing to disclose.
Conflict of interest: S. El-Chemaly has nothing to disclose.
Conflict of interest: J. Moss has nothing to disclose.
Conflict of interest: E.P. Henske has nothing to disclose.
Conflict of interest: D.J. Kwiatkowski has nothing to disclose.
- Received May 9, 2018.
- Accepted May 25, 2019.
- Copyright ©ERS 2019
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