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Semin Respir Crit Care Med
DOI: 10.1055/a-2698-7273
Review Article

Emerging Concepts in Pathogenesis, Multiomics Applications, and Clinical Research in Lymphangioleiomyomatosis

Authors

  • Jane J. Yu

    1   Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio

  • Nishant Gupta

    1   Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio

  • Minzhe Guo

    2   The Perinatal Institute and Section of Neonatology, Perinatal and Pulmonary Biology, University of Cincinnati College of Medicine, Cincinnati, Ohio

  • Tasnim Olatoke

    1   Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio

  • Yan Xu

    2   The Perinatal Institute and Section of Neonatology, Perinatal and Pulmonary Biology, University of Cincinnati College of Medicine, Cincinnati, Ohio
    3   Department of Biomedical Informatics, University of Cincinnati School of Medicine, Cincinnati, Ohio

Funding This work was supported by the NIH (grant nos.: R01HL160972 and R01HL178848 to J.J.Y., R01HL153045 and R01 HL172914 to Y.X. and J.J.Y.; U01 HL175383 and U01HL148856 to Y.X.), the LAM Foundation (grant nos.: LAM0150C01-22-888654 to M.G.; LAM0155S01-22-968724, LAM0164E01-1177076-2, and LAMF165EI-1346848-25 to Y.X.).
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Abstract

Lymphangioleiomyomatosis (LAM) is a rare, female-predominant, low-grade neoplasm characterized by infiltration of abnormal smooth muscle-like and epithelioid cells into the lung parenchyma, leading to cystic changes and progressive respiratory failure. In recent years, LAM has been an exemplar of meaningful progress in a rare lung disease, driven by close collaboration between patients, scientists, and clinicians, leading to the development of the U.S. Food and Drug Administration (FDA)-approved therapy, a diagnostic biomarker, a worldwide clinic network, and clinical practice guidelines. Integrating state-of-the-art bioinformatics and experimental approaches is helping accelerate the scientific progress in LAM and promises the development of novel biomarkers and therapies in the coming few years.

Keywords

lymphangioleiomyomatosis - diagnostic biomarker - progressive respiratory failure - bioinformatics applications in LAM


Publication History

Received: 03 September 2025

Accepted: 10 September 2025

Article published online:
26 September 2025

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