Lymphangioleiomyomatosis

Progress in Respiratory Research

Volumn 36, Issue , 2007, Pages 275-284

  Johnson, S ^a  

^a QUEEN S MEDICAL CENTRE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 49449103920     PISSN: 14222140     EISSN: 16623932     Source Type: Book Series    
DOI: 10.1159/000102697     Document Type: Review

References (89)

1. Johnson SR, Tattersfield AE: Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000;55:1052-1057.
2. Urban T, Lazor R, Lacronique J, Murris M, Labrune S, Valeyre D, Cordier JF: Pulmonary lymphangioleiomyomatosis: a study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies 'Orphelines' Pulmonaires (GERM'O'P). Medicine (Baltimore) 1999;78:321-337.
3. Costello LC, Hartman TE, Ryu JH: High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc 2000;75:591-594.
4. Franz DN, Brody A, Meyer C, Leonard J, Chuck G, Dabora S, Sethuraman G, Colby TV, Kwiatkowski DJ, McCormack FX: Mutational and radiographic analysis of pulmonary disease consistent with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in women with tuberous sclerosis. Am J Respir Crit Care Med 2001;164: 661-668.
5. Moss J, Avila NA, Barnes PM, Litzenberger RA, Bechtle J, Brooks PG, Hedin CJ, Hunsberger S, Kristof AS: Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med 2001;164:669-671.
6. Hancock E, Tomkins S, Sampson J, Osborne J: Lymphangioleiomyomatosis and tuberous sclerosis. Respir Med 2002;96:7-13.
7. Oh YM, Mo EK, Jang SH, Yoo CG, Kim YW, Seo JW, Han SK, Im JG, Shim YS: Pulmonary lymphangioleiomyomatosis in Korea. Thorax 1999;54:618-621.
8. Aubry MC, Myers JL, Ryu JH, Henske EP, Logginidou H, Jalal SM, Tazelaar HD: Pulmonary lymphangioleiomyomatosis in a man. Am J Respir Crit Care Med 2000;162(2Pt 1):749-752.
9. Johnson SR, Tattersfield AE: Decline in lung function in lymphangioleiomyomatosis: relation to menopause and progesterone treatment. Am J Respir Crit Care Med 1999;160:628-633.
10. Cohen MM, Pollock-BarZiv S, Johnson SR: Emerging clinical picture of lymphangioleiomyomatosis. Thorax 2005;60:875-879.
11. Lutembacher R: Dysembryomes metatypiques des reins. Carcinose sublimiare aigue du poumon avec emphyseme generalise et double pneumothorax. Ann Med 1918;5:435.
12. Ryu JH, Moss J, Beck GJ, Lee J-C, Brown KK, Chapman JT, Finlay GA, Olson EJ, Ruoss SJ, Maurer JR, et al: The NHLBI Lymphangioleiomyomatosis registry: characteristics of 230 patients at enrollment. Am J Respir Crit Care Med 2006;173:105-111.
13. Inoki K, Li Y, Xu T, Guan KL: Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling. Genes Dev 2003;17:1829-1834.
14. Stocker H, Radimerski T, Schindelholz B, Wittwer F, Belawat P, Daram P, Breuer S, Thomas G, Hafen E: Rheb is an essential regulator of S6K in controlling cell growth in Drosophila. Nat Cell Biol 2003;5:559-565.
15. Goncharova EA, Goncharov DA, Eszterhas A, Hunter DS, Glassberg MK, Yeung RS, Walker CL, Noonan D, Kwiatkowski DJ, Chou MM et al: Tuberin regulates p70 S6 kinase activation and ribosomal protein S6 phosphorylation: a role for the TSC2 tumor suppressor gene in pulmonary lymphangioleiomyomatosis (LAM). J Biol Chem 2002;277:30958-30967.
16. McManus EJ, Alessi DR: TSC1-TSC2:a complex tale of PKB-mediated S6K regulation. Nat Cell Biol 2002;4:E214-E216.
17. Tee AR, Anjum R, Blenis J: Inactivation of the tuberous sclerosis complex-1 and -2 gene products occurs by phosphoinositide 3-kinase/akt-dependent and -independent phosphorylation of tuberin. J Biol Chem 2003;278: 37288-37296.
18. Manning BD, Tee AR, Logsdon MN, Blenis J, Cantley LC: Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway. Mol Cell 2002;10:151-162.
19. Jaeschke A, Hartkamp J, Saitoh M, Roworth W, Nobukuni T, Hodges A, Sampson J, Thomas G, Lamb R: Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent. J Cell Biol 2002;159: 217-224.
20. Inoki K, Li Y, Zhu T, Wu J, Guan K: TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling. Nat Cell Biol 2002; 4:648-657.
21. Schmelzle T, Hall MN: TOR, a central controller of cell growth (comment). Cell 2000;103:253-262.
22. Xu G, Kwon G, Cruz WS, Marshall CA, McDaniel ML: Metabolic regulation by leucine of translation initiation through the mTOR-signaling pathway by pancreatic beta-cells. Diabetes 2001;50:353-360.
23. Kim DH, Sarbassov DD, Ali SM, King JE, Latek RR, Erdjument-Bromage H, Tempst P, Sabatini DM: mTOR interacts with raptor to form a nutrient-sensitive complex that signals to the cell growth machinery. Cell 2002;110:163-175.
24. Plas DR, Thompson CB: Akt activation promotes degradation of tuberin and FOXO3a via the proteasome. J Biol Chem 2003;278:12361-12366.
25. Roux PP, Ballif BA, Anjum R, Gygi SP, Blenis J: Tumor-promoting phorbol esters and activated Ras inactivate the tuberous sclerosis tumor suppressor complex via p90 ribosomal S6 kinase. Proc Natl Acad Sci USA 2004;101:13489- 13494.
26. Li Y, Inoki K, Vacrasis P, Guan KL: The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 (TSC2) gene product, and enhances its interaction with 14-3-3. J Biol Chem 2003;278:13663-13671.
27. Inoki K, Zhu T, Guan KL: TSC2 mediates cellular energy response to control cell growth and survival. Cell 2003;115:577-590.
28. Goncharova E, Goncharov D, Noonan D, Krymskaya VP: TSC2 modulates actin cytoskeleton and focal adhesion through TSC1-binding domain and the Rac1 GTPase. J Cell Biol 2004;167:1171-1182.
29. Lamb RF, Roy C, Diefenbach TJ, Vinters HV, Johnson MW, Jay DG, Hall A: The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat Cell Biol 2000;2:281-287.
30. Rosner M, Freilinger A, Hengstschlager M: Proteins interacting with the tuberous sclerosis gene products. Amino Acids 2004;27:119-128.
31. Sepp T, Yates JR, Green AJ: Loss of heterozygosity in tuberous sclerosis hamartomas. J Med Genet 1996;33:962-964.
32. Han S, Santos TM, Puga A, Roy J, Thiele EA, McCollin M, Stemmer-Rachamimov A, Ramesh V: Phosphorylation of tuberin as a novel mechanism for somatic inactivation of the tuberous sclerosis complex proteins in brain lesions. Cancer Res 2004;64:812-816.
33. Carsillo T, Astrinidis A, Henske EP: Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. Proc Natl Acad Sci USA 2000;97:6085-6090.
34. Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O: Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. J Hum Genet 2002;47:20-28.
35. Sato T, Seyama K, Kumasaka T, Fujii H, Setoguchi Y, Shirai T, Tomino Y, Hino O, Fukuchi Y: A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis. J Intern Med 2004;256:166-173.
36. Corrin B, Liebow AA, Friedman PJ: Pulmonary lymphangioleiomyomatosis. Amn J Pathol 1975;79:348-382.
37. Zhe X, Yang Y, Schuger L: Imbalanced plasminogen system in lymphangioleiomyomatosis: potential role of serum response factor. Am J Respir Cell Mol Biol 2005;32:28-34.
38. Kitaichi M, Nishimura K, Itoh H, Izumi T: Pulmonary lymphangioleiomyomatosis: a report of 46 patients including a clinicopathologic study of prognostic factors. Am J Respir Crit Care Med 1995;151(2Pt 1):527-533.
39. Hayashi T, Fleming MV, Stetler-Stevenson WG, Liotta LA, Moss J, Ferrans VJ, Travis WD: Immunohistochemical study of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) in pulmonary lymphangioleiomyomatosis (LAM). Hum Pathol 1997;28:1071-1078.
40. Avila NA, Kelly JA, Chu SC, Dwyer AJ, Moss J: Lymphangioleiomyomatosis: abdominopelvic CT and US findings. Radiology 2000;216:147-153.
41. Chu SC, Horiba K, Usuki J, Avila NA, Chen CC, Travis WD, Ferrans VJ, Moss J: Comprehensive evaluation of 35 patients with lymphangioleiomyomatosis. Chest 1999;115:1041-1052.
42. L'Hostis H, Deminiere C, Ferriere JM, Coindre JM: Renal angiomyolipoma: a clinicopathologic, immunohistochemical, and follow-up study of 46 cases. Am J Surg Pathol 1999;23:1011-1020.
43. Pea M, Bonetti F, Zamboni G, Martignoni G, Riva M, Colombari R, Mombello A, Bonzanini M, Scarpa A, Ghimenton C, et al: Melanocyte-marker-HMB-45 is regularly expressed in angiomyolipoma of the kidney. Pathology 1991;23:185-188.
44. Karbowniczek M, Yu J, Henske EP: Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures. Am J Pathol 2003;162:491-500.
45. Matsui K, Tatsuguchi A, Valencia J, Yu Z, Bechtle J, Beasley MB, Avila N, Travis WD, Moss J, Ferrans VJ: Extrapulmonary lymphangioleiomyomatosis (LAM): clinicopathologic features in 22 cases. Hum Pathol 2000;31:1242-1248.
46. Bonetti F, Chiodera PL, Pea M, Martignoni G, Bosi F, Zamboni G, Mariuzzi GM: Transbronchial biopsy in lymphangiomyomatosis of the lung: HMB45 for diagnosis. Am J Surg Pathol 1993;17:1092-1102.
47. Matsumoto Y, Horiba K, Usuki J, Chu SC, Ferrans VJ, Moss J: Markers of cell proliferation and expression of melanosomal antigen in lymphangioleiomyomatosis. Am J Respir Cell Mol Biol 1999;21:327-336.
48. Tanaka H, Imada A, Morikawa T, Shibusa T, Satoh M, Sekine K, Abe S: Diagnosis of pulmonary lymphangioleiomyomatosis by HMB45 in surgically treated spontaneous pneumothorax. Eur Respir J 1995;8: 1879-1882.
49. Banner AS: Hormone receptors in lymphangioleiomyomatosis. Chest 1984;85:3-4.
50. Matsui K, Takeda K, Yu ZX, Valencia J, Travis WD, Moss J, Ferrans VJ: Downregulation of estrogen and progesterone receptors in the abnormal smooth muscle cells in pulmonary lymphangioleiomyomatosis following therapy: an immunohistochemical study. Am J Respir Crit Care Med 2000;161(3Pt 1):1002-1009.
51. Svendsen TL, Viskum K, Hansborg N, Thorpe SM, Nielsen NC: Pulmonary lymphangioleiomyomatosis: a case of progesterone receptor positive lymphangioleiomyomatosis treated with medroxyprogesterone, oophorectomy and tamoxifen. Br J Dis Chest 1984;78:264-271.
52. Ferrans VJ, Yu ZX, Nelson WK, Valencia JC, Tatsuguchi A, Avila NA, Riemenschn W, Matsui K, Travis WD, Moss J: Lymphangioleiomyomatosis (LAM): a review of clinical and morphological features. J Nippon Med Sch 2000;67:311-329.
53. Taveira-DaSilva AM, Hedin C, Stylianou MP, Travis WD, Matsui K, Ferrans VJ, Moss J: Reversible airflow obstruction, proliferation of abnormal smooth muscle cells, and impairment of gas exchange as predictors of outcome in lymphangioleiomyomatosis. Am J Respir Crit Care Med 2001;164:1072-1076.
54. Roach ES, DiMario FJ, Kandt RS, Northrup H: Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association. J Child Neurol 1999;14:401-407.
55. Moss J, DeCastro R, Patronas NJ, Taveira-DaSilva A: Meningiomas in Lymphangioleiomyomatosis. JAMA 2001;286:1879-1881.
56. Cottin V, Vukusic S, Jouanneau E, Lazor R, Cordier J-F: Should patients with lymphangioleiomyomatosis undergo screening for meningioma? Eur Respir J 2004;24:888-889.
57. Taylor JR, Ryu J, Colby TV, Raffin TA: Lymphangioleiomyomatosis. Clinical course in 32 patients. N Engl J Med 1990;323:1254-1260.
58. Avila NA, Chen CC, Chu SC, Wu M, Jones EC, Neumann RD, Moss J: Pulmonary lymphangioleiomyomatosis: correlation of ventilation-perfusion scintigraphy, chest radiography, and CT with pulmonary function tests. Radiology 2000;214:441-446.
59. Pickhardt PJ, Kazerooni EA, Flint A: Diagnosis of lymphangioleiomyomatosis by CT-guided retroperitoneal biopsy. Clin Radiol 2000;55:477-478.
60. Guinee DG Jr, Feuerstein I, Koss MN, Travis WD: Pulmonary lymphangioleiomyomatosis: diagnosis based on results of transbronchial biopsy and immunohistochemical studies and correlation with high-resolution computed tomography findings. Arch Pathol Lab Med 1994;118:846-849.
61. Tazi A, Soler P, Hance AJ: Rare diseases bullet 9: adult pulmonary Langerhans' cell histiocytosis. Thorax 2000;55:405-416.
62. Souza CA, Finley R, Muller NL: Birt-Hogg-Dube syndrome: a rare cause of pulmonary cysts. Am J Roentgenol 2005;185:1237-1239.
63. Itoh T, Mochizuki M, Kumazaki S, Ishihara T, Fukayama M: Cystic pulmonary metastases of endometrial stromal sarcoma of the uterus, mimicking lymphangiomyomatosis: a case report with immunohistochemistry of HMB45. Pathol Int 1997;47:725-729.
64. Carrington CB, Cugell DW, Gaensler EA, Marks A, Redding RA, Schaaf JT, Tomasian A: Lymphangioleiomyomatosis: physiologic-pathologic-radiologic correlations. Am Rev Respir Dis 1977;116:977-995.
65. Johnson SR, Whale CI, Hubbard RB, Lewis SA, Tattersfield AE: Survival and disease progression in UK patients with lymphangioleiomyomatosis. Thorax 2004;59:800-803.
66. Matsui K, Beasley MB, Nelson WK, Barnes PM, Bechtle J, Falk R, Ferrans VJ, Moss J, Travis WD: Prognostic significance of pulmonary lymphangioleiomyomatosis histologic score. Am J Surg Pathol 2001;25:479-484.
67. Lazor R, Valeyre D, Lacronique J, Wallaert B, Urban T, Cordier JF: Low initial KCO predicts rapid FEV1 decline in pulmonary lymphangioleiomyomatosis. Respir Med 2004;98:536-541.
68. Sullivan EJ: Lymphangioleiomyomatosis: a review. Chest 1998;114:1689-1703.
69. Johnson S: Rare diseases. 1. Lymphangioleiomyomatosis: clinical features, management and basic mechanisms. Thorax 1999;54:254-264.
70. Taveira-DaSilva AM, Stylianou MP, Hedin CJ, Hathaway O, Moss J: Decline in lung function in patients with lymphangioleiomyomatosis treated with or without progesterone. Chest 2004;126:1867-1874.
71. Boehler A, Speich R, Russi EW, Weder W: Lung transplantation for lymphangioleiomyomatosis. N Engl J Med 1996;335: 1275-1280.
72. Ryu JH, Doerr CH, Fisher SD, Olson EJ, Sahn SA: Chylothorax in lymphangioleiomyomatosis. Chest 2003;123:623-627.
73. Pechet TT, Meyers BF, Guthrie TJ, Battafarano RJ, Trulock EP, Cooper JD, Patterson GA: Lung transplantation for lymphangioleiomyomatosis. J Heart Lung Transplant 2004;23:301-308.
74. Taveira-DaSilva AM, Stylianou MP, Hedin CJ, Hathaway O, Moss J: Bone mineral density in lymphangioleiomyomatosis. Am J Respir Crit Care Med 2005;171:61-67.
75. Bissler J, Kingswood J: Renal angiomyolipomata. Kidney Int 2004;66:924-934.
76. Nelson CP, Sanda MG: Contemporary diagnosis and management of renal angiomyolipoma (review). J Urol 2002;168(4Part 1 of 2):1315-1325.
77. Lee JD, Chang HC, Chu SH, Hsueh S, Soong YK: Massive retroperitoneal hemorrhage from spontaneous rupture of a renal angiomyolipoma during pregnancy: a case report. J Reprod Med 1994;39:477-480.
78. Forsnes EV, Eggleston MK, Burtman M: Placental abruption and spontaneous rupture of renal angiomyolipoma in a pregnant woman with tuberous sclerosis. Obstet Gynecol 1996;88(4Pt 2):725.
79. Mitchell AL, Parisi MA, Sybert VP: Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous sclerosis complex. Genet Med 2003;5:154-160.
80. Desai S, Hejmadi R, Krishnamurthy S, Chinoy RF: Renal angiomyolipoma: a clinicopathologic, immunohistochemical, and follow-up study of 46 cases. Am J Surg Pathol 2001;25:972-973.
81. Hamlin JA, Smith DC, Taylor FC, McKinney JM, Ruckle HC, Hadley HR: Renal angiomyolipomas: long-term follow-up of embolization for acute hemorrhage. Canad Assoc Radiol J 1997;48:191-198.
82. Kennelly MJ, Grossman HB, Cho KJ: Outcome analysis of 42 cases of renal angiomyolipoma (comment). J Urol 1994;152(6 Pt 1):1988-1991.
83. Bissler J, Racadio J, Donnelly L, Johnson N: Reduction of postembolization syndrome after ablation of renal angiomyolipoma. Am J Kid Dis 2002;39:966-971.
84. McCarty KS, Mossler JA, McLelland R, Sieker HO: Pulmonary lymphangiomyomatosis responsive to progesterone. N Engl J Med 1980;303:1461-1465.
85. Desurmont S, Bauters C, Copin MC, Dewailly D, Tonnel AB, Wallaert B: Treatment of pulmonary lymphangioleiomyomatosis using a GnRH agonist. Rev Mal Respir 1996;13:300-304.
86. Kenerson H, Dundon TA, Yeung RS: Effects of rapamycin in the Eker rat model of tuberous sclerosis complex. Pediatr Res 2005;57:67-75.
87. Maziak DE, Kesten S, Rappaport DC, Maurer J: Extrathoracic angiomyolipomas in lymphangioleiomyomatosis. Eur Respir J 1996;9:402-405.
88. Bernstein SM, Newell JD, Jr., Adamczyk D, Mortenson RL, King TE, Jr., Lynch DA: How common are renal angiomyolipomas in patients with pulmonary lymphangiomyomatosis? Am J Respir Crit Care Med 1995;152(6Pt 1):2138-2143.
89. Berger JL, Shaff MI: Pulmonary lymphangioleiomyomatosis. J Comput Assist Tomogr 1981;5:565-567.