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Tuberous sclerosis and lymphangiomyomatosis

MedGen UID:
808187
•Concept ID:
CN221561
•
Disease or Syndrome

Professional guidelines

PubMed

French recommendations for the diagnosis and management of lymphangioleiomyomatosis.
Cottin V, Blanchard E, Kerjouan M, Lazor R, Reynaud-Gaubert M, Taille C, Uzunhan Y, Wemeau L, Andrejak C, Baud D, Bonniaud P, Brillet PY, Calender A, Chalabreysse L, Court-Fortune I, Desbaillets NP, Ferretti G, Guillemot A, Hardelin L, Kambouchner M, Leclerc V, Lederlin M, Malinge MC, Mancel A, Marchand-Adam S, Maury JM, Naccache JM, Nasser M, Nunes H, Pagnoux G, Prévot G, Rousset-Jablonski C, Rouviere O, Si-Mohamed S, Touraine R, Traclet J, Turquier S, Vagnarelli S, Ahmad K; OrphaLung network
Respir Med Res 2023 Jun;83:101010. Epub 2023 Mar 24 doi: 10.1016/j.resmer.2023.101010. PMID: 37087906
Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.
McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX
Lancet Respir Med 2021 Nov;9(11):1313-1327. Epub 2021 Aug 27 doi: 10.1016/S2213-2600(21)00228-9. PMID: 34461049
Lymphangioleiomyomatosis: New Treatment Perspectives.
Radzikowska E
Lung 2015 Aug;193(4):467-75. Epub 2015 May 17 doi: 10.1007/s00408-015-9742-6. PMID: 25980593

Recent clinical studies

Etiology

Lymphangioleiomyomatosis.
Elia D, Cassandro R, Caminati A, Luisi F, Harari S
Presse Med 2023 Sep;52(3):104173. Epub 2023 Sep 9 doi: 10.1016/j.lpm.2023.104173. PMID: 37696446
Cystic lung disease.
Cabeza Martínez B, Giménez Palleiro A, Mazzini Florindez SP
Radiologia (Engl Ed) 2022 Dec;64 Suppl 3:265-276. doi: 10.1016/j.rxeng.2022.09.005. PMID: 36737165
Renal manifestation of tuberous sclerosis complex.
Bissler JJ, Christopher Kingswood J
Am J Med Genet C Semin Med Genet 2018 Sep;178(3):338-347. Epub 2018 Oct 11 doi: 10.1002/ajmg.c.31654. PMID: 30307110
Uterine PEComas: A Morphologic, Immunohistochemical, and Molecular Analysis of 32 Tumors.
Bennett JA, Braga AC, Pinto A, Van de Vijver K, Cornejo K, Pesci A, Zhang L, Morales-Oyarvide V, Kiyokawa T, Zannoni GF, Carlson J, Slavik T, Tornos C, Antonescu CR, Oliva E
Am J Surg Pathol 2018 Oct;42(10):1370-1383. doi: 10.1097/PAS.0000000000001119. PMID: 30001237Free PMC Article
Lymphatic manifestations of lymphangioleiomyomatosis.
Gupta R, Kitaichi M, Inoue Y, Kotloff R, McCormack FX
Lymphology 2014 Sep;47(3):106-17. PMID: 25420303

Diagnosis

Lymphangioleiomyomatosis.
Elia D, Cassandro R, Caminati A, Luisi F, Harari S
Presse Med 2023 Sep;52(3):104173. Epub 2023 Sep 9 doi: 10.1016/j.lpm.2023.104173. PMID: 37696446
Cystic lung disease.
Cabeza Martínez B, Giménez Palleiro A, Mazzini Florindez SP
Radiologia (Engl Ed) 2022 Dec;64 Suppl 3:265-276. doi: 10.1016/j.rxeng.2022.09.005. PMID: 36737165
Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.
McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX
Lancet Respir Med 2021 Nov;9(11):1313-1327. Epub 2021 Aug 27 doi: 10.1016/S2213-2600(21)00228-9. PMID: 34461049
Tuberous sclerosis: a review of the past, present, and future.
Uysal SP, Şahin M
Turk J Med Sci 2020 Nov 3;50(SI-2):1665-1676. doi: 10.3906/sag-2002-133. PMID: 32222129Free PMC Article
The Genetics of Pneumothorax.
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA
Am J Respir Crit Care Med 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. PMID: 30681372Free PMC Article

Therapy

Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.
McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX
Lancet Respir Med 2021 Nov;9(11):1313-1327. Epub 2021 Aug 27 doi: 10.1016/S2213-2600(21)00228-9. PMID: 34461049
Lymphangioleiomyomatosis.
Xu KF, Xu W, Liu S, Yu J, Tian X, Yang Y, Wang ST, Zhang W, Feng R, Zhang T
Semin Respir Crit Care Med 2020 Apr;41(2):256-268. Epub 2020 Apr 12 doi: 10.1055/s-0040-1702195. PMID: 32279296
Emerging biomarkers of lymphangioleiomyomatosis.
Nijmeh J, El-Chemaly S, Henske EP
Expert Rev Respir Med 2018 Feb;12(2):95-102. Epub 2017 Dec 1 doi: 10.1080/17476348.2018.1409622. PMID: 29171770
Lymphangioleiomyomatosis.
Johnson SR, Taveira-DaSilva AM, Moss J
Clin Chest Med 2016 Sep;37(3):389-403. doi: 10.1016/j.ccm.2016.04.002. PMID: 27514586
Tuberous sclerosis complex.
Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA
Nat Rev Dis Primers 2016 May 26;2:16035. doi: 10.1038/nrdp.2016.35. PMID: 27226234

Prognosis

mTORC1 upregulates B7-H3/CD276 to inhibit antitumor T cells and drive tumor immune evasion.
Liu HJ, Du H, Khabibullin D, Zarei M, Wei K, Freeman GJ, Kwiatkowski DJ, Henske EP
Nat Commun 2023 Mar 3;14(1):1214. doi: 10.1038/s41467-023-36881-7. PMID: 36869048Free PMC Article
Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.
McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX
Lancet Respir Med 2021 Nov;9(11):1313-1327. Epub 2021 Aug 27 doi: 10.1016/S2213-2600(21)00228-9. PMID: 34461049
Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell.
Guo M, Yu JJ, Perl AK, Wikenheiser-Brokamp KA, Riccetti M, Zhang EY, Sudha P, Adam M, Potter A, Kopras EJ, Giannikou K, Potter SS, Sherman S, Hammes SR, Kwiatkowski DJ, Whitsett JA, McCormack FX, Xu Y
Am J Respir Crit Care Med 2020 Nov 15;202(10):1373-1387. doi: 10.1164/rccm.201912-2445OC. PMID: 32603599Free PMC Article
Lymphangioleiomyomatosis.
Doubková M, Štefániková M, Čan V, Merta Z, Svoboda M
Klin Onkol 2019 Fall;32(5):367-374. doi: 10.14735/amko2019367. PMID: 31610670
Uterine PEComas: A Morphologic, Immunohistochemical, and Molecular Analysis of 32 Tumors.
Bennett JA, Braga AC, Pinto A, Van de Vijver K, Cornejo K, Pesci A, Zhang L, Morales-Oyarvide V, Kiyokawa T, Zannoni GF, Carlson J, Slavik T, Tornos C, Antonescu CR, Oliva E
Am J Surg Pathol 2018 Oct;42(10):1370-1383. doi: 10.1097/PAS.0000000000001119. PMID: 30001237Free PMC Article

Clinical prediction guides

Lymphangioleiomyomatosis: pathogenesis, clinical features, diagnosis, and management.
McCarthy C, Gupta N, Johnson SR, Yu JJ, McCormack FX
Lancet Respir Med 2021 Nov;9(11):1313-1327. Epub 2021 Aug 27 doi: 10.1016/S2213-2600(21)00228-9. PMID: 34461049
Single-Cell Transcriptomic Analysis Identifies a Unique Pulmonary Lymphangioleiomyomatosis Cell.
Guo M, Yu JJ, Perl AK, Wikenheiser-Brokamp KA, Riccetti M, Zhang EY, Sudha P, Adam M, Potter A, Kopras EJ, Giannikou K, Potter SS, Sherman S, Hammes SR, Kwiatkowski DJ, Whitsett JA, McCormack FX, Xu Y
Am J Respir Crit Care Med 2020 Nov 15;202(10):1373-1387. doi: 10.1164/rccm.201912-2445OC. PMID: 32603599Free PMC Article
Lymphangioleiomyomatosis.
Doubková M, Štefániková M, Čan V, Merta Z, Svoboda M
Klin Onkol 2019 Fall;32(5):367-374. doi: 10.14735/amko2019367. PMID: 31610670
Uterine PEComas: A Morphologic, Immunohistochemical, and Molecular Analysis of 32 Tumors.
Bennett JA, Braga AC, Pinto A, Van de Vijver K, Cornejo K, Pesci A, Zhang L, Morales-Oyarvide V, Kiyokawa T, Zannoni GF, Carlson J, Slavik T, Tornos C, Antonescu CR, Oliva E
Am J Surg Pathol 2018 Oct;42(10):1370-1383. doi: 10.1097/PAS.0000000000001119. PMID: 30001237Free PMC Article
Emerging biomarkers of lymphangioleiomyomatosis.
Nijmeh J, El-Chemaly S, Henske EP
Expert Rev Respir Med 2018 Feb;12(2):95-102. Epub 2017 Dec 1 doi: 10.1080/17476348.2018.1409622. PMID: 29171770

Recent systematic reviews

Clinical features and outcomes of male patients with lymphangioleiomyomatosis: A review.
Zhang H, Hu Z, Wang S, Wu K, Yang Q, Song X
Medicine (Baltimore) 2022 Dec 30;101(52):e32492. doi: 10.1097/MD.0000000000032492. PMID: 36596036Free PMC Article
Characteristics of Patients with Lymphangioleiomyomatosis and Pleural Effusion: A Systematic Review.
Lama A, Ferreiro L, Golpe A, Gude F, Álvarez-Dobaño JM, González-Barcala FJ, Toubes ME, San José E, Rodríguez-Núñez N, Valdés L
Respiration 2016;91(3):256-64. Epub 2016 Mar 4 doi: 10.1159/000444264. PMID: 26938102
Efficacy and safety of sirolimus for renal angiomyolipoma in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis: a systematic review.
Peng ZF, Yang L, Wang TT, Han P, Liu ZH, Wei Q
J Urol 2014 Nov;192(5):1424-30. Epub 2014 May 9 doi: 10.1016/j.juro.2014.04.096. PMID: 24813310

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