Skip to main content

Main menu

  • Home
  • Current issue
  • ERJ Early View
  • Past issues
  • For authors
    • Instructions for authors
    • Submit a manuscript
    • Author FAQs
  • Alerts
  • Podcasts
  • Subscriptions
  • ERS Publications
    • European Respiratory Journal
    • ERJ Open Research
    • European Respiratory Review
    • Breathe
    • ERS Books
    • ERS publications home

User menu

  • Log in
  • Subscribe
  • Contact Us
  • My Cart

Search

  • Advanced search
  • ERS Publications
    • European Respiratory Journal
    • ERJ Open Research
    • European Respiratory Review
    • Breathe
    • ERS Books
    • ERS publications home

Login

European Respiratory Society

Advanced Search

  • Home
  • Current issue
  • ERJ Early View
  • Past issues
  • For authors
    • Instructions for authors
    • Submit a manuscript
    • Author FAQs
  • Alerts
  • Podcasts
  • Subscriptions

Generalized mosaicism for TSC2 mutation in isolated Lymphangioleiomyomatosis

Barbara Ogorek, Lana Hamieh, Kathryn Lasseter, Shefali Bagwe, Tania Machado, Carmen Herranz-Ors, Aaron R. Thorner, Anwesha Nag, Peter Gulleman, Krinio Giannikou, Lisa R. Young, Miquel Àngel Pujana, Thomas N. Darling, Souheil El-Chemaly, Joel Moss, Elizabeth P. Henske, David J. Kwiatkowski
European Respiratory Journal 2019; DOI: 10.1183/13993003.00938-2019
Barbara Ogorek
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Lana Hamieh
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Kathryn Lasseter
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Shefali Bagwe
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Tania Machado
Pulmonary Branch, National Heart, Lung, and Blood Institute (NHLBI), USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Carmen Herranz-Ors
ProCURE, Catalan Institute of Oncology (ICO), Bellvitge Institute of Biomedical Research (IDIBELL), Barcelona, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Aaron R. Thorner
Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Anwesha Nag
Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Peter Gulleman
Division of Pediatric Pulmonary Medicine, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee., USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Krinio Giannikou
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Lisa R. Young
Division of Pediatric Pulmonary Medicine, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee., USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Miquel Àngel Pujana
ProCURE, Catalan Institute of Oncology (ICO), Bellvitge Institute of Biomedical Research (IDIBELL), Barcelona, Spain
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Thomas N. Darling
Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Souheil El-Chemaly
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Joel Moss
Pulmonary Branch, National Heart, Lung, and Blood Institute (NHLBI), USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Elizabeth P. Henske
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
David J. Kwiatkowski
Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • For correspondence: dk@rics.bwh.harvard.edu
  • Article
  • Info & Metrics
  • PDF
Loading

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-LAM) [1]. LAM is caused by biallelic inactivation of the tumor suppressor gene TSC2 in LAM cells, which leads to hyperactivation of mTORC1, resulting in anabolism and LAM cell proliferation [2]. Sirolimus and everolimus, mTORC1 allosteric inhibitors, have been shown to retard progression of LAM [3].

Footnotes

This manuscript has recently been accepted for publication in the European Respiratory Journal. It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJ online. Please open or download the PDF to view this article.

Conflict of interest: Dr. Ogorek has nothing to disclose.

Conflict of interest: Dr. Hamieh has nothing to disclose.

Conflict of interest: Ms. Lasseter has nothing to disclose.

Conflict of interest: Dr. Bagwe has nothing to disclose.

Conflict of interest: Dr. Thorner has nothing to disclose.

Conflict of interest: Dr. Nag has nothing to disclose.

Conflict of interest: Dr. Gulleman has nothing to disclose.

Conflict of interest: Dr. Giannikou has nothing to disclose.

Conflict of interest: Dr. Young reports grants from The LAM Foundation, during the conduct of the study; other from Boehringer Ingelheim, other from UpToDate, outside the submitted work; In addition, Dr. Young has a patent VEGF-D in diagnosis of LAM licensed to Cincinnati Children's (no personal royalties).

Conflict of interest: Dr. Pujana reports grants from Roche Pharma, outside the submitted work.

Conflict of interest: Dr. Darling has nothing to disclose.

Conflict of interest: Dr. El-Chemaly has nothing to disclose.

Conflict of interest: Dr. Moss has nothing to disclose.

Conflict of interest: Dr. Henske has nothing to disclose.

Conflict of interest: Dr. Kwiatkowski has nothing to disclose.

Conflict of interest: Dr. Herranz has nothing to disclose.

Conflict of interest: Tania Machado has nothing to disclose.

  • Copyright ©ERS 2019
View Full Text

INDIVIDUALS

Log in using your username and password

– ERS members: log in with your myERS username and password.
– Other users: log in with the credentials you created when you registered.
Forgot your user name or password?
Forgot your username or password?

LIBRARY USERS

Log in through your institution

If your library has a subscription, you may already be logged in via your IP address. Otherwise you may be able to log in via one of the following routes.
You may be able to gain access using your login credentials for your institution. Contact your library if you do not have a username and password.
If your organization uses OpenAthens, you can log in using your OpenAthens username and password. To check if your institution is supported, please see this list. Contact your library for more details.
If you think you should have access, please contact your librarian or email journals@ersnet.org

Purchase access

You may purchase access to this article. This will require you to create an account if you don't already have one.

CONTACT US

If you have any questions about the ERS publications website, please contact journals@ersnet.org

PreviousNext
Back to top
View this article with LENS
Vol 54 Issue 6 Table of Contents
European Respiratory Journal: 54 (6)
  • Table of Contents
  • Index by author
Email

Thank you for your interest in spreading the word on European Respiratory Society .

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Generalized mosaicism for TSC2 mutation in isolated Lymphangioleiomyomatosis
(Your Name) has sent you a message from European Respiratory Society
(Your Name) thought you would like to see the European Respiratory Society web site.
Print
Alerts
Sign In to Email Alerts with your Email Address
Citation Tools
Generalized mosaicism for TSC2 mutation in isolated Lymphangioleiomyomatosis
Barbara Ogorek, Lana Hamieh, Kathryn Lasseter, Shefali Bagwe, Tania Machado, Carmen Herranz-Ors, Aaron R. Thorner, Anwesha Nag, Peter Gulleman, Krinio Giannikou, Lisa R. Young, Miquel Àngel Pujana, Thomas N. Darling, Souheil El-Chemaly, Joel Moss, Elizabeth P. Henske, David J. Kwiatkowski
European Respiratory Journal Jan 2019, 1900938; DOI: 10.1183/13993003.00938-2019

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero

Share
Generalized mosaicism for TSC2 mutation in isolated Lymphangioleiomyomatosis
Barbara Ogorek, Lana Hamieh, Kathryn Lasseter, Shefali Bagwe, Tania Machado, Carmen Herranz-Ors, Aaron R. Thorner, Anwesha Nag, Peter Gulleman, Krinio Giannikou, Lisa R. Young, Miquel Àngel Pujana, Thomas N. Darling, Souheil El-Chemaly, Joel Moss, Elizabeth P. Henske, David J. Kwiatkowski
European Respiratory Journal Jan 2019, 1900938; DOI: 10.1183/13993003.00938-2019
del.icio.us logo Digg logo Reddit logo Technorati logo Twitter logo CiteULike logo Connotea logo Facebook logo Google logo Mendeley logo
Full Text (PDF)

Jump To

  • Article
  • Info & Metrics
  • PDF
  • Tweet Widget
  • Facebook Like
  • Google Plus One

More in this TOC Section

  • An imported case of e-cigarette or vaping associated lung injury (EVALI) in Barcelona
  • Increased ventilation heterogeneity in asthma can be attributed to proximal bronchioles
  • Gene-based diagnosis of tuberculosis with a new-generation pathogen enrichment technique
Show more Research letter

Related Articles

Navigate

  • Home
  • Current issue
  • Archive

About the ERJ

  • Journal information
  • Editorial board
  • Reviewers
  • CME
  • Press
  • Permissions and reprints
  • Advertising

The European Respiratory Society

  • Society home
  • myERS
  • Privacy policy
  • Accessibility

ERS publications

  • European Respiratory Journal
  • ERJ Open Research
  • European Respiratory Review
  • Breathe
  • ERS books online
  • ERS Bookshop

Help

  • Feedback

For authors

  • Instructions for authors
  • Submit a manuscript
  • ERS author centre

For readers

  • Alerts
  • Subjects
  • Collections
  • Podcasts
  • RSS

Subscriptions

  • Accessing the ERS publications

Contact us

European Respiratory Society
442 Glossop Road
Sheffield S10 2PX
United Kingdom
Tel: +44 114 2672860
Email: journals@ersnet.org

ISSN

Print ISSN:  0903-1936
Online ISSN: 1399-3003

Copyright © 2019 by the European Respiratory Society