title: [Pulmonary lymphangioleiomyomatosis: From pathogenesis to management].
abstract: BACKGROUND
  Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease affecting mainly young women.
  
  
  BACKGROUND
  The respiratory manifestations are characterized by a progressive cystic destruction of the lung parenchyma. Extrapulmonary involvement includes benign renal tumours called angiomyolipomas and abdominal lymphatic masses called lymphangioleiomyomas. At the pathological level, the cellular proliferation found in LAM is in part due to the presence of mutations in the tumour suppressor genes TSC1 and TSC2 (Tuberous Sclerosis Complex). These mutations lead to the activation of the mTOR pathway, which is currently the main therapeutic target. mTOR inhibitors such as sirolimus or everolimus have shown a beneficial effect on the decline in pulmonary function and a reduction of angiomyolipoma size, but are necessary in only some patients.
  
  
  CONCLUSIONS
  LAM cells have migratory properties mediated by the formation of new lymphatic vessels. They are also able to secrete metalloproteases, which enhance their invasiveness. Moreover, the expression of estrogen and progesterone receptors by LAM cells suggests a possible role for sex hormones in the pathogenesis of the disease.
  
  
  CONCLUSIONS
  A better understanding of mTOR-independent mechanisms would allow the development of novel therapeutic approaches.
authors.affiliation: Service de pneumologie, centre de référence des maladies pulmonaires rares, hôpital Louis-Pradel, hospices civils de Lyon, 8, avenue du Doyen-Lépine, 69677 Lyon cedex, France; UMR 754 Inra, université de Lyon, université Claude-Bernard Lyon 1, 69366 Lyon cedex, France.
authors.forename: N
authors.initials: N
authors.lastname: Chebib
authors.affiliation: Service de pneumologie, centre de référence des maladies pulmonaires rares, hôpital Louis-Pradel, hospices civils de Lyon, 8, avenue du Doyen-Lépine, 69677 Lyon cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Khouatra
authors.affiliation: Service de pneumologie, centre de référence des maladies pulmonaires rares, hôpital Louis-Pradel, hospices civils de Lyon, 8, avenue du Doyen-Lépine, 69677 Lyon cedex, France; Unité des pneumopathies interstitielles et maladies pulmonaires rares, service de pneumologie, centre hospitalier universitaire vaudois, 1011 Lausanne, Suisse.
authors.forename: R
authors.initials: R
authors.lastname: Lazor
authors.affiliation: UMR 754 Inra, université de Lyon, université Claude-Bernard Lyon 1, 69366 Lyon cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Archer
authors.affiliation: UMR 754 Inra, université de Lyon, université Claude-Bernard Lyon 1, 69366 Lyon cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Leroux
authors.affiliation: Service de radiologie, hôpital Louis-Pradel, hospices civils de Lyon, 69677 Lyon cedex, France.
authors.forename: D
authors.initials: D
authors.lastname: Gamondes
authors.affiliation: Centre de pathologie Est, groupement hospitalier Est, hospices civils de Lyon, 69677 Lyon cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Thivolet-Bejui
authors.affiliation: Service de pneumologie, centre de référence des maladies pulmonaires rares, hôpital Louis-Pradel, hospices civils de Lyon, 8, avenue du Doyen-Lépine, 69677 Lyon cedex, France; UMR 754 Inra, université de Lyon, université Claude-Bernard Lyon 1, 69366 Lyon cedex, France.
authors.forename: J F
authors.initials: JF
authors.lastname: Cordier
authors.affiliation: Service de pneumologie, centre de référence des maladies pulmonaires rares, hôpital Louis-Pradel, hospices civils de Lyon, 8, avenue du Doyen-Lépine, 69677 Lyon cedex, France; UMR 754 Inra, université de Lyon, université Claude-Bernard Lyon 1, 69366 Lyon cedex, France. Electronic address: vincent.cottin@chu-lyon.fr.
authors.forename: V
authors.initials: V
authors.lastname: Cottin
mesh_terms: D000328:Adult; D005260:Female; D049673:History, 20th Century; D049674:History, 21st Century; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000628:therapy; D018192:Lymphangioleiomyomatosis / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology / Q000628:therapy
keywords: Angiomyolipoma; Angiomyolipome; Lymphangioleiomyomatosis; Lymphangioléiomyomatose; MTOR protein; Protéine mTOR; Sclérose tubéreuse de Bourneville; Sirolimus; Tuberous sclerosis