Criner RN, Al-abcha A, Lambert A, Han MK. Lung diseases unique to women. Clin Chest Med. 2021;42(3):507–16. https://doi.org/10.1016/j.ccm.2021.04.014.

Article  PubMed  PubMed Central  Google Scholar 

Elia D, Cassandro R, Caminati A, Luisi F, Harari S. Quarterly medical review – rare respiratory diseases: Lymphangioleiomyomatosis. Presse Med. 2023;52(3):104173. https://doi.org/10.1016/j.lpm.2023.104173.

Article  PubMed  Google Scholar 

Franciosi AN, Gupta N, Murphy D, Wikenheiser-Brokamp KA, McCarthy C. Diffuse cystic lung disease: a clinical guide to recognition and management. Chest. 2024;167(2):529–47. https://doi.org/10.1016/j.chest.2024.08.008.

Article  PubMed  Google Scholar 

Johnson SR, Shaw DE, Avoseh M, Soomro I, Pointon KS, Kokosi M et al. Diagnosis of cystic lung diseases: a position statement from the UK cystic lung disease rare disease collaborative network. Thorax 2024:79366–77. https://doi.org/10.1136/thorax-2022-219738

Koslow M, Lynch DA, Downey GP. Lymphangioleiomyomatosis and other cystic lung diseases. Immunol Allergy Clin North Am. 2023;43(2):359–77. https://doi.org/10.1016/j.iac.2023.01.003.

Article  PubMed  PubMed Central  Google Scholar 

Elia D, Torre O, Cassandro R, Caminati A, Harari S. Ultra-rare cystic disease. Eur Respir Rev. 2020;29(157). https://doi.org/10.1183/16000617.0163-2019.

Jones KD. Pulmonary cystic disease and its mimics. Surg Pathol Clin. 2020;13(1):141–63. https://doi.org/10.1016/j.path.2019.11.007.

Article  PubMed  Google Scholar 

Alkemade L, Berghuis MAT, Koopman B, van Pampus MG. Initial presentation of Lymphangioleiomyomatosis in third trimester of pregnancy. BMJ Case Rep. 2021;14:e237824. https://doi.org/10.1136/bcr-2020-237824.

Article  PubMed  PubMed Central  Google Scholar 

Taveira-DaSilva AM, Johnson SR, Julien-Williams P, Johnson J, Stylianou M, Moss J. Pregnancy in lymphangioleiomyomatosis: clinical and lung function outcomes in two National cohorts. Thorax 2020:75(10):904–7. https://doi.org/10.1136/thoraxjnl-2020-214987

Gupta N, Johnson S. Lymphangioleiomyomatosis: no longer ultra-rare. Am J Respir Crit Care Med. 2024;209(4):358–9. https://doi.org/10.1164/rccm.202312-2254ED.

Article  PubMed  PubMed Central  Google Scholar 

Lynn E, Forde SH, Franciosi AN, Bendstrup E, Veltkamp M, Wind AE et al. Updated prevalence of Lymphangioleiomyomatosis in Europe. Am J Respir Crit Care Med 2024:209(4):456–59. https://doi.org/10.1164/rccm.202310-1736LE

McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX. Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management. Lancet Respir Med 2021:9:1313–77. https://doi.org/10.1016/S2213-2600(21)00228-9

Agrawal A, Karle E, Patel TP, Wilson G, Hofmann H, Sunna R, et al. A pregnant woman presenting with progressively worsening dyspnea and pneumothorax. Chest. 2020;157(6):e193–96. https://doi.org/10.1016/j.chest.2019.11.035.

Article  PubMed  Google Scholar 

Guo M, Yu JJ, Perl AK, Wikenheiser-Brokamp KA, Riccetti M, Zhang EY et al. Single-cell transcriptomic analysis identifies a unique pulmonary Lymphangioleiomyomatosis cell. Am J Respir Crit Care Med 2020:202(10):1373–87. https://doi.org/10.1164/rccm.201912-2445OC

Cottin V, Blanchard E, Kerjouan M, Lazor R, Reynaud-Gaubert M, Taille C et al. French recommendations for the diagnosis and management of Lymphangioleiomyomatosis. Respir Med Res 2023:83:101010. https://doi.org/10.1016/j.resmer.2023.101010

Gupta N, Finlay GA, Kotloff RM, Strange C, Wison KC, Young LR et al. Lymphangioleiomyomatosis diagnosis and management: high-resolution chest computed tomography, transbronchial lung biopsy, and pleural disease management. An official American thoracic society/japanese respiratory society clinical practice guideline. Am J Respir Crit Care Med 2017:96(10):1337–48. https://doi.org/10.1164/rccm.201709-1965ST

Li M, Zhu WY, Wang J, Yang XD, Li WM, Wang G. Diagnostic performance of VEGF-D for lymphangioleiomyomatosis: a meta-analysis. J Bras Pneumol 2022:48(1):e20210337. https://doi.org/10.36416/1806-3756/e20210337

Daccord C, Aubert V, Félix N, Lazor R. P235 serum VEGF-D level as a diagnostic biomarker of Lymphangioleiomyomatosis in clinical practice. Chest Joint Congress 2017:151(5):A135. https://doi.org/10.1016/j.chest.2017.04.142

Revilla-López E, Ruiz de Miguel V, López-Meseguer M, Berastegui C, Boada-Pérez M, Mendoza-Valderrey A, et al. Lymphangioleiomyomatosis: searching for potential biomarkers. Front Med (Lausanne). 2023;10e1079317. https://doi.org/10.3389/fmed.2023.1079317.

Xu W, Yang C, Cheng C, Wang Y, Hu D, Huang J, et al. Determinants of progression and mortality in Lymphangioleiomyomatosis. Chest. 2023;164(1):137–48. https://doi.org/10.1016/j.chest.2023.02.026.

Article  PubMed  Google Scholar 

Aquilina G, Carmelo Caltabiano D, Galioto F, Cancemi G, Pino F, Vancheri A, et al. Cystic interstitial lung diseases: a pictorial review and a practical guide for the radiologist. Diagnostics. 2020;10(6):346. https://doi.org/10.3390/diagnostics10060346.

Article  PubMed  PubMed Central  Google Scholar 

Arango-Diaz A, Martínez-de-Alegría-Alonso A, Baleato-González S, García-Figueiras R, Ecenarro-Montiel A, Trujillo-Ariza MV, et al. CT findings of pulmonary cysts. Clin Radiol. 2021;76(7):548e. https://doi.org/10.1016/j.crad.2021.02.015.

Article  Google Scholar 

Cabeza Martínez B, Giménez Palleiro A, Mazzini Florindez SP. Cystic lung disease. Radiología (Eng Ed). 2023;64(265–76). https://doi.org/10.1016/j.rxeng.2022.09.005.

Jonas A, Muelly M, Gupta N, Reicher JJ. Machine learning to distinguish Lymphangioleiomyomatosis from other diffuse cystic lung diseases. Respir Investig. 2022;60(3):430–33. https://doi.org/10.1016/j.resinv.2022.01.001.

Article  PubMed  Google Scholar 

Kusmirek JE, Meyer CA. High-resolution computed tomography of cystic lung disease. Semin Respir Crit Care Med 2022:43:792–808. https://doi.org/10.1055/s-0042-1755565

McCormack FX, Inoue Y, Moss J, Singer LG, Strange C, Nakata K et al. Efficacy and safety of sirolimus in Lymphangioleiomyomatosis. N Engl J Med 2011:364(17):1595–606. https://doi.org/10.1056/NEJMoa1100391

Cheng C, Xu W, Wang Y, Zhang T, Yang L, Zhou W, et al. Sirolimus reduces the risk of pneumothorax recurrence in patients with lymphangioleiomyomatosis: a historical prospective self-controlled study. Orphanet J Rare Dis. 2022;17(1):257. https://doi.org/10.1186/s13023-022-02418-2.

Article  PubMed  PubMed Central  Google Scholar 

Cortinas N, Liu J, Kopras E, Memon H, Burkes R, Gupta N. Impact of age, menopause, and sirolimus on spontaneous Pneumothoraces in Lymphangioleiomyomatosis. Chest 2022:162(6):1324–27. https://doi.org/10.1016/j.chest.2022.05.036

Fletke KJ, Taylor N, Shah N. Management of a rare case of Lymphangioleiomyomatosis complicated by recurrent pneumothorax. BMJ Case Rep 2024:17:e260369. https://doi.org/10.1136/bcr-2024-260369

Revilla-López E, Berastegui C, Méndez A, Sáez-Giménez B, Ruiz de Miguel V, López-Meseguer M, et al. Long-term results of sirolimus treatment in lymphangioleiomyomatosis: a single referral centre experience. Sci Rep. 2021;11(1):10171. https://doi.org/10.1038/s41598-021-89562-0.

Article  PubMed  PubMed Central  Google Scholar 

Kundu N, Holz MK. Lymphangioleiomyomatosis: a metastatic lung disease. Am J Physiol Cell Physiol. 2023;324:C320–26. https://doi.org/10.1152/ajpcell.00202.2022.

Article  PubMed  Google Scholar 

Warrior K, Dilling DF. Lung transplantation for Lymphangioleiomyomatosis. J Heart Lung Transpl. 2023;42(1):40–52. https://doi.org/10.1016/j.healun.2022.09.021.

Article  Google Scholar 

Gibbons E, Taya M, Wu H, Lopa SH, Moss J, Henske EP, et al. Glycoprotein non-metastatic melanoma protein B promotes tumor growth and is a biomarker for Lymphangioleiomyomatosis. Endocr Relat Cancer. 2024;31(6):e230312. https://doi.org/10.1530/ERC-23-0312.

Article  PubMed  PubMed Central  Google Scholar 

Tréfier A, Tousson-Abouelazm N, Yamani L, Ibrahim S, Joung KB, Pietrobon A, et al. Enhanced Gαq signaling in TSC2-deficient cells is required for their neoplastic behavior. Am J Respir Cell Mol Biol. 2024;Epub ahead of print. https://doi.org/10.1165/rcmb.2024-0111OC.

Amosu MM, Jankowski AM, McCright JC, Yang BE, Grano de Oro, Fernandez J, et al. Plasmacytoid dendritic cells mediate CpG-ODN-induced increase in survival in a mouse model of Lymphangioleiomyomatosis. Am J Respir Cell Mol Biol. 2024;71(5):519–33. https://doi.org/10.1165/rcmb.2023-0410OC.

Article  PubMed  Google Scholar 

Evans JF, Ledwell OA, Tang Y, Rue R, Mukhitov AR, Diesler R et al. The bi-steric inhibitor RMC-5552 reduces mTORC1 signaling and growth in Lymphangioleiomyomatosis. Am J Respir Cell Mol Biol 2024:Epub ahead Print. https://doi.org/10.1165/rcmb.2024-0242OC

Lee S, Lebron A, Matthew B, Moss J, Wen H. Automated segmentation and measurements of pulmonary cysts in Lymphangioleiomyomatosis across multiple CT scanner platforms over a period of two decades. Bioeng (Basel). 2023;10(11):1255. https://doi.org/10.3390/bioengineering10111255.

Article  Google Scholar 

Gupta N, Zhang B, Zhou Y, McCormack FX, Ingedue R, Robbins N, et al. Safety and efficacy of combined Resveratrol and sirolimus in Lymphangioleiomyomatosis. Chest. 2023;163(5):1144–55. https://doi.org/10.1016/j.chest.2023.01.007.

Article  PubMed  PubMed Central  Google Scholar 

Olatoke T, Wagner A, Asristotelis A, Zhang EY, Guo M, Zhang AG, et al. Single-cell multiomic analysis identifies a HOX-PBX gene network regulating the survival of Lymphangioleiomyomatosis cells. Sci Adv. 2023;9(19):eadf8549. https://doi.org/10.1126/sciadv.adf8549.

Article  PubMed  PubMed Central  Google Scholar 

Yang B, Moss J. Cell survival pathways targeted in rare lung disease affecting women. Sci Adv. 2023;9(19):eadi1215. https://doi.org/10.1126/sciadv.adi1215.

Article  PubMed  PubMed Central  Google Scholar 

Zhou J, Diao M. Lymphangioleiomyomatosis and pregnancy: a mini-review. Arch Gynecol Obstet. 2024;309:2339–46. https://doi.org/10.1007/s00404-024-07478-2.

Article  PubMed  PubMed Central  Google Scholar 

Shaw B, Borchers M, Zander D, Gupta N. Pulmonary Langerhans cell histiocytosis. Semin Respir Crit Care Med. 2020;41(2):269–79. https://doi.org/10.1055/s-0039-1700996.

Article  PubMed  Google Scholar 

Kourouni I, Han K, Glaab J, Khalid F, Sivak ED, Tamaskar I, et al. A 62-year-old woman with nodules, cysts, and activated bone marrow. Chest. 2022;161(3):e175–80. https://doi.org/10.1016/j.chest.2021.10.022.

Benattia A, Bugnet E, Walter-Petrich A, de Margerie-Mellon C, Meignin V, Seguin-Givelet A et al. Long-term outcomes of adult pulmonary Langerhans cell histiocytosis: a prospective cohort. Eur Respir J 2021:59(5):2101017. https://doi.org/10.1183/13993003.01017-2021

Goyal G, Tazi A, Go RS, Rech KL, Picarsic JL, Vassallo R et al. International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults. Blood 2022:139(17):2601–21. https://doi.org/10.1182/blood.2021014343