High Prevalence of TSC2 Mutations in Lung Tissue Samples from Patients with Sporadic Lymphangioleiomyomatosis (LAM)

<title>Extract</title> Lymphangioleiomyomatosis (LAM) is a rare and progressive cystic lung disease occurring predominantly in premenopausal woman, with rare cases reported in men. The pathogenesis is thought to be due to proliferative smooth muscle-like cells (LAM cells) that cause lung cystogenesis. LAM occurs both sporadically (sporadic-LAM), accounting for the majority of clinically diagnosed individuals, and in association with Tuberous Sclerosis Complex (TSC-LAM) [1]. Bi-allelic mutation in <italic>TSC2</italic> activates mTOR complex 1 (mTORC1), which promotes unchecked cellular proliferation and growth [2]. Pharmacological inhibition of mTORC1 with rapamycin, an allosteric mTORC1 inhibitor, has been shown to stabilise lung function and attenuate disease progression in most patients with LAM [3].

Authors

Institutions

Publication Details

Journal
European Respiratory Journal
Published
2026-03-05
DOI
https://doi.org/10.1183/13993003.02321-2025
Primary Topic
Tuberous Sclerosis Complex Research
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

High Prevalence of TSC2 Mutations in Lung Tissue Samples from Patients with Sporadic Lymphangioleiomyomatosis (LAM)

Elias Bou Farhat, 瀬山 邦明, Yoichiro Mitsuishi, Katarzyna Klonowska et al.
European Respiratory Journal
Tuberous Sclerosis Complex Research
article

High Prevalence of TSC2 Mutations in Lung Tissue Samples from Patients with Sporadic Lymphangioleiomyomatosis (LAM)

Elias Bou Farhat, 瀬山 邦明, Yoichiro Mitsuishi, Katarzyna Klonowska, Victoria‐Elisabeth Gruber, Joel Moss, Renata Langfort., Zachary T. Herbert, Elzbieta Janina Radzikowska, Simon R. Johnson, Suzanne Miller, Elizabeth P. Henske, David J. Kwiatkowski, Jason L. Hornick
article en

Abstract

<title>Extract</title> Lymphangioleiomyomatosis (LAM) is a rare and progressive cystic lung disease occurring predominantly in premenopausal woman, with rare cases reported in men. The pathogenesis is thought to be due to proliferative smooth muscle-like cells (LAM cells) that cause lung cystogenesis. LAM occurs both sporadically (sporadic-LAM), accounting for the majority of clinically diagnosed individuals, and in association with Tuberous Sclerosis Complex (TSC-LAM) [1]. Bi-allelic mutation in <italic>TSC2</italic> activates mTOR complex 1 (mTORC1), which promotes unchecked cellular proliferation and growth [2]. Pharmacological inhibition of mTORC1 with rapamycin, an allosteric mTORC1 inhibitor, has been shown to stabilise lung function and attenuate disease progression in most patients with LAM [3].

European Respiratory Journal
Brigham and Women's Hospital (US), Harvard University (US), Masih Daneshvari Hospital (IR), Juntendo University (JP), National Heart, Lung, and Blood Institute (US), Dana-Farber Cancer Institute (US), National Center for Tuberculosis and Lung Disease (GE), Nottingham Biomedical Research Centre (GB), Institute of Bioorganic Chemistry, Polish Academy of Sciences (PL)
Good health and well-being
Openalex Percentile: Top 33%
Tuberous Sclerosis Complex Research
DOISourceOpenAlex
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.