An integrated clinical approach to diffuse cystic lung diseases

Sarcoidosis Vasculitis and Diffuse Lung Diseases

Volumn 22, Issue SUPPL. 1, 2005, Pages

  Harari, Sergio ^a   Paciocco, Giuseppe ^a  

^a San Giuseppe Hospital   (Italy)

Author keywords

Bronchoalveolar lavage; Cystic lung diseases; High resolution computed tomography; Langerhans cell histiocytosis; Lymphangioleiomyomatosis; Pulmonary arterial hypertension; Pulmonary function tests; Six minute walking test; Trans bronchial biopsies

Indexed keywords

ANTIGEN PRESENTING CELL; CONFERENCE PAPER; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; EXERCISE TEST; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HISTIOCYTOSIS; HUMAN; HUMAN CELL; LANGERHANS CELL; LUNG CYST; LUNG DISEASE; LUNG FUNCTION TEST; LUNG LAVAGE; LUNG PARENCHYMA; LYMPHANGIOLEIOMYOMATOSIS; OPEN LUNG BIOPSY; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RARE DISEASE; TRANSBRONCHIAL BIOPSY; WALKING;

BIOPSY, NEEDLE; BRONCHOALVEOLAR LAVAGE FLUID; CYSTS; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; FEMALE; HISTIOCYTOSIS, LANGERHANS-CELL; HUMANS; IMMUNOHISTOCHEMISTRY; LUNG NEOPLASMS; LYMPHANGIOLEIOMYOMATOSIS; MALE; PROGNOSIS; RESPIRATORY FUNCTION TESTS; RISK ASSESSMENT; SURVIVAL RATE; TOMOGRAPHY, X-RAY COMPUTED;

EID: 31544437211     PISSN: 11240490     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (112)

1. NHLBI Workshop Summary: Report of workshop on lymphangioleiomyomatosis. National Heart, Lung, and Blood Institute. Am J Respir Crit Care Med 1999; 159: 679-83.
2. Vassallo R, Ryu JH, Colby TV, et al: Pulmonary Langerhans-cell Histiocytosis. N Engl J Med 2000; 342: 1969-78.
3. Chu SC, Horiba K, Usuki J, et al: Comprehensive evaluation of 35 patients with lymphangioleiomyomatosis. Chest 1999; 115: 1041-52.
4. Urban T, Lazor R, Lacronique J, et al: Pulmonary Lymphangioleiomyomatosis. A study of 69 patients. Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires (GERM"O"P). Medicine 1999; 78: 321-37.
5. Vassallo R, Ryu JH, Schroeder DR, et al: Clinical outcomes of pulmonary Langherhans-cell Histiocytosis in adults. N Engl J Med 2002; 346: 484-90.
6. Favara BE, Feller AC, Pauli M, et al: Contemporary classification of histiocytic disorders. Med Pediatr Oncol 1997; 29: 157-66.
7. Gaensler E, Carrington C: Open biopsy for chronic diffuse infiltrative lung disease: clinical, rocntgenographic, and physiological correlations in 502 patients. Ann Thorac Surg 1980; 30: 411-26.
8. Thomeer M, Demedts M, Vandeurzen K: Registration of interstitial lung diseases by 20 centers of respiratory medicine in Flanders. Acta Clin Belg 2001; 56: 163-72.
9. Tinelli C, De Silvestri A, Richeldi L, Oggionni T: The Italian Register for Diffuse Infiltrative Lung Disorders (RIPID): a four year report. Sarcoidosis Vasc Diffuse Lung Dis 2005; 22: S4-8.
10. Friedman PJ, Liebow AA, Sokoloff J: Eosinophilic granuloma of lung. Clinical aspects of primary histiocytosis in the adult. Medicine 1981; 60: 385-96.
11. Howarth DM, Gilchrist GS, Mullan BP, et al: Langerhans cell histiocytosis: diagnosis, natural history, and outcome. Cancer 1999; 85: 2278-90.
12. Basset F, Corrin B, Spencer H: Pulmonary histiocytosis X. Am Rev Respir Dis 1978; 118: 811-20.
13. Schonfeld N, Frank W, Wenig S: Clinical and radiologic features, lung function and therapeutic results in pulmonary histiocytosis X. Respiration 1993; 60: 38-44.
14. Travis WD, Borok Z, Roum JH, et al: Pulmonary Langcrhans cell granulomatosis (histocytosis X). A clinico-pathologic study of 48 cases. Am J Surg Pathol 1993; 17: 971-86.
15. Delobbe A, Durieu J, Duhamel A, Wallaert B: Determinants of survival in pulmonary Langerhans cell granulomatosis (histiocytosis X). Groupe d'Etude en Pathologie Interstitielle de la Societe de Pathologie Thoracique du Nord. Eur Respir J 1996; 9: 2002-6.
16. Watanabe R, Tatsumi K, Hashimoto S, Tamakoshi A, Kuriyama T: Clinico-epidemiological features of pulmonary histiocytosis X. Intern Med 2001; 40: 998-1003.
17. Kalassian KG, Doyle R, Kao P, et al: Lymphangioleiomyomatosis: new insights. Am J Respir Crit Care Med 1997; 155: 1183-6.
18. Sullivan EJ: Lymphangioleiomyomatosis. A review. Chest 1998; 114: 1689-703.
19. Johnson S: Lymphangioleiomyomatosis: clinical features, management and basic mechanisms. Thorax 1999; 54: 254-64.
20. Costello LC, Hartman TE, Ryu JH: High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc 2000; 75: 591-4.
21. Moss J, Avila N, Barnes PM, et al: Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med 2001; 163: 669-71.
22. Franz DN, Brody A, Meyer C, et al: 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: 661-8.
23. Osborne JP, Fryer A, Webb D: Epidemiology of tuberous sclerosis. Ann NY Acad Sci 1991; 615: 125-7.
24. Cordier JF, Lazor R, and the Groupe d'Etudes et de Recherche sur les Maladies "Orphelines" Pulmonaires: Perspectives on lymphangioleiomyomatosis in France. In: Moss J, ed. LAM and other Diseases Characterized by Smooth Muscle Proliferation. New York, NY: Marcel Dekker Inc 1999, pp. 9-31.
25. van Slegtenhorst M, de Hoogt R, Hermans C, et al: Identification of the tuberous sclerosis gene TSCI on chromosome 9q34. Science 1997; 277: 805-8.
26. Consortium E.C.T.S.: Identification and characterization of the tuberous sclerosis gene on chromosome 16. The European Chromosome 16 Tuberous Sclerosis Consortium. Cell 1993; 75: 1305-15.
27. Tee AR, Fingar DC, Manning BD, Kwiatkowski DJ, Cantley LC, Blenis J: Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediatcd downstream signalling. PNAS 2002; 99: 13571-6.
28. Valensi QJ: Pulmonary lymphangioma, a probable forme fruste of tuberous sclerosis: a case report and survey of the literature. Am Rev Respir Dis 1973; 108: 1411-15.
29. Kaku T, Toyoshiina S, Enjoji M: Tuberous sclerosis with pulmonary and lymph node involvement: relationship to lymphangioleiomyomatosis. Acta Pathol Jpn 1983; 33: 395-401.
30. Capron F. Ameille J, Leclere P, et al: Pulmonary lymphangioleiomyomatosis and Bourneville's tuberous sclerosis with pulmonary involvement: the same disease? Cancer 1983; 52: 851-5.
31. Hanck RW, Konig G, Permanatter W, et al: Tuberous sclerosis with pulmonary involvement. Respiration 1990; 57: 289-92.
32. Torres VE, Bjornsson J, King BF, et al: Extra-pulmonary lymphangioleiomyomatosis and lymphangiomatous cysts in tuberous sclerosis complex. Mayo Clin Proc 1995; 70: 641-8.
33. Vadas G, Pare JAP, Thurlbeck WM: Pulmonary and lymph node myomatosis: review of the literature and report of a case. Can Med Assoc J 1967; 96: 420-4.
34. Monteforte WJ, Kohnen PW: Angiomyolipomas in a case of lymphangiomyomatosis syndrome: relationships to tuberous sclerosis. Cancer 1974; 34: 317-21.
35. Kerr LA, Blute ML, Ryu JH, Swensen SJ, Malek RS: Renal angiomyolipoma in association with pulmonary lymphangioleiomyomatosis: forme fruste of tuberous sclerosis? Urology 1993; 41: 440-4.
36. Maziak DE, Kesten S, Rappaport DC, et al: Extrathoracic angiomyolipomas in Lymphangioleiomyomatosis. Eur Respir J 1996; 9: 402-5.
37. Tazi A, Bonay M, Grandsaigne M, Battesti JP, Hance AJ, Soler P: Surface phenotype of Langerhans cells and lymphocytes in granulomatous lesions from patients with pulmonary histiocytosis X. Am Rev Respir Dis 1993; 147: 1531-6.
38. Soler P, Chollet S, Jacque C, Fukuda Y, Ferrans VJ, Basset F: Immunocytochemical characterization of pulmonary histiocytosis X cells in lung biopsies. Am J Pathol 1985; 118: 439-51.
39. Flint A, Lloyd RV, Colby TV, Wilson BW: Pulmonary histiocytosis X: immunoperoxidase staining for HLA-DR antigen and S-100 protein. Arch Pathol Lab Med 1986; 110: 930-3.
40. Colby TV, Lombard C: Histiocytosis X in the lung. Hum Pathol 1983; 14: 847-56.
41. Birbeck MS, Breathnach AS, Everall JD: An electron microscopic study of basal melanocytes and high-level clear cells (Langerhans cells) in vitiligo. J Invest Dermatol 1961; 37: 51-64.
42. Ghadially FN: Langerhans' cell granules. In: Ultrastructural pathology of the cell and matrix. Boston: Butterworth-Heinemann 1997, pp. 1218-23.
43. Huang F, Arceci R: The histiocytosis of infancy. Semin Perinatol 1999; 23: 319-31.
44. Vassallo R, Jensen EA, Colby TV, et al: The overlap between respiratory bronchiolitis and desquamative interstitial pneumonia in pulmonary Langerhans Cell Histiocytosis. High-resolution CT, Histologic, and Functional Correlations. Chest 2003; 124: 1199-205.
45. Ferrans VJ, Yu ZX, Nelson WK, et al: Lymphangioleiomyomatosis (LAM). A review of clinical and morphological features. J Nippon Med Sch 2000; 67: 311-29.
46. Peyrol S, Gindre D, Cordier JF, Loire R, Grimaud JA: Characterisation of the smooth muscle cell infiltrate and associated connective tissue matrix of lymphangioleiomyomatosis. Immunohistochemical and ultrastructural study of two cases. J Pathol 1992; 168: 387-95.
47. Popper HH, Gamperi R, Pongratz MG, Kullnig P, Juttner-Smolle F, Pfragner R: Chromosome typing in lymphangioleiomyomatosis of the lung with and without tuberous sclerosis. Eur Respir J 1993; 6: 753-9.
48. Fukuda Y, Kawamoto M, Yamamoto A, et al: Role of elastic fibre degradation in emphysema-like lesions of pulmonary lymphangioleiomyomatosis. Hum Pathol 1990; 21: 1252-61.
49. Chan JKC, Tsang WYW, Pau MY, Pang SW, Fletcher CDM: Lymphangioleiomyomatosis and angiomyolipoma: closely related entities characterized by hamartomatous proliferation of HMB-45 positive smooth muscle. Histopathology 1993; 22: 445-55.
50. Bonetti F, Chiodera P, Pea M, et al: Transbronchial biopsy in lymphangioleiomyomatosis of the lung: HMB-45 for diagnosis. Am J Surg Pathol 1993; 17: 1092-102.
51. Tanaka H, Imada A, Morikawa T, et al: Transbronchial biopsy in lymphangioleiomyomatosis by HMB-45 in surgically treated spontaneous pneumothorax. Eur Respir J 1995; 8: 1879-82.
52. Hayashi T, Flemming MV, Stetler-Stevenson WG, et al: Immunohistochemical study of matrix metalloproteinases and their tissue inhibitors in pulmonary lymphangiolciomyomatosis. Hum Pathol 1997; 28: 1071-8.
53. Berger U, Khaghani A, Pomerancc A, Yacoub MH, Coombes RC: Pulmonary lymphangioleiomyomatosis and steroid receptors. Am J Clin Pathol 1990; 93: 609-14.
54. Ohori NP, Yousem SA, Sonmez-Alpan E, et al: Estrogen and progesterone receptors in lymphangioleiomyomatosis, epithelioid hemangioendothelioma, and sclerosing hemangioma of the lung. Am J Clin Pathol 1991; 96: 529-35.
55. Barberis M, Monti GP, Ziglio G, Veronese S, Harari S: Oestrogen and progesterone receptors (ER and PR) detection in pulmonary lymphangioleiomyomatosis. Am Rev Respir Dis 1996; 153: A271.
56. Yu J, Astrinidis A, Howard S, Henske EP: Estradiol and tamoxifen stimulate LAM-associated angiomyolipoma cell growth and activate both genomic and non-genomic signalling pathways. Am J Physiol Lung Cell Mol Physiol 2004; 286: L694-L700.
57. Matsui K, Takeda K, Yu ZX, et al: Down-regulation 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: 1002-9.
58. Banner AS, Carrington CB, Emory WB, et al: Efficacy of oophorectomy in lymphangioleiomyomatosis and benign metastasizing leiomyoma. N Engl J Med 1981; 305: 204-9.
59. Eliasson AH, Phillips YY, Tenholder MF: Treatment of lymphangioleiomyomatosis. A meta-analysis. Chest 1989; 196: 1352-5.
60. Taylor JR. Ryu J, Colby TV, Raffin TA: Lymphangioleiomyomatosis. Clinical course in 32 patients. N Engl J Med 1990; 323: 1254-60.
61. Tomasian A, Greenberg MS, Rumerman H: Tamoxifen for lymphangioleiomyomatosis. N Engl J Med 1981; 306: 745-6.
62. Sawicka EH, Morris JR: A report of two long-surviving cases of pulmonary lymphangioleiomyomatosis and the response to progesterone therapy. Br J Dis Chest 1985; 79: 400-6.
63. Rossi GA, Balbi B, Oddera S, et al: Response to treatment with an analogue of the luteinizing-hormone-releasing hormone in a patient with pulmonary lymphangioleiomyomatosis. Am Rev Respir Dis 1991; 143: 174-6.
64. Cassandro R, Paciocco G, Bianchi A, et al: A Three Year Study Evaluation of Tryptoreline for Lymphangioleiomyomatosis. Am J Respir Crit Care Med 2005; 171: A122.
65. Taveira-Da Silva AM, Hedin CJ, Stylianou MP, et al: 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: 1072-6.
66. Harari S, Cornel A: Pulmonary Langerhans Cell Histiocytosis. Sarcoidosis 2001; 18: 253-62.
67. Meyer JS, Harty MP, Mahboubi S: Langerhans cell Histiocytosis: presentation and evolution of radiologic findings with clinical correlation. Radiographics 1995; 15: 1135-46.
68. Kilpatrick SE, Wenger DE, Gilchrist GS, et al: Langerhans cell histiocytosis (histiocytosis of bone). Cancer 1995; 76: 2471-84.
69. Munn S, Chu AC: Langerhans cell Histiocytosis of the skin. Hematol Oncol Clin North Am 1998; 12: 269.
70. Johnson SR, Tattersfield AE: Clinical experience of lymphangioleiomyomatosis in the UK. Thorax 2000; 55: 1052-7.
71. Berkman N, Bloom A, Cohen P, et al: Bilateral spontaneous pneumothorax as the presenting feature in lymphangioleiomyomatosis. Respir Med 1995; 89: 381-3.
72. Ryu JH, Doerr CH, Fisher SD, et al: Chylothorax in lymphangioleiomyomatosis. Chest 2003; 123: 623-7.
73. Bernstein SM, Newell JD, Adamczyk D, et al: How common are renal angiomyolipomas in patients with pulmonary lymphangioleiomyomatosis? Am J Respir Crit Care Med 1995; 152: 2138-43.
74. Avila NA, Kelly JA, Chu SC, Dwyer AJ, Moss J: Lymphangioleiomyomatosis: abdomino-pelvic CT and US findings. Radiology 2000; 216: 147-53.
75. Bissler JJ, Kingswood JC: Renal angiomyolipomata. Kidney Int 2004; 66: 924-34.
76. Moss J, De Castro R, Patronas N, Taveira-Da Silva AM: Meningiomas in lymphangioleiomyomatosis. JAMA 2001; 286: 1879-91.
77. Crausman RS, Jennings CA, Tuder R, et al: Pulmonary histiocytosis X: Pulmonary function and exercise pathophysiology. Am J Respir Crit Care Med 1996; 153: 426-35.
78. Crausman RS, Jennings CA, Mortenson RL, et al: Lymphangioleiomyomatosis: the pathophysiology of diminished exercise capacity. Am J Respir Crit Care Med 1996; 153: 1368-76.
79. Kitaichi M, Nishimura K, Itoh H, et al: Pulmonary lymphangioleiomyomatosis: a report of 46 patients including a clinico-pathologic study of prognostic features. Am J Respir Crit Care Med 1995; 151: 527-33.
80. Paciocco G, Uslenghi E, Bianchi A, et al: Diffuse cystic lung diseases: correlation between radiological and functional status. Chest 2004; 125: 135-42.
81. Keogh BA, Lakatos E, Price D, Crystal RG: Importance of the lower respiratory tract in oxygen transfer: exercise testing in patients with interstitial and destructive lung disease. Am Rev Respir Dix 1984; 129: S76-S80.
82. Crausman RS, Lynch DA, Mortensen RL, et al: Quantitative CT predicts the severity of physiologic dysfunction in patients with lymphangiomyomatosis. Chest 1996; 109: 131-7.
83. Lacronique J, Roth C, Battesti JP, Basset F, Chretien J: Chest radiological features of pulmonary histiocytosis X: a report based on 50 adult cases. Thorax 1982; 37: 104-9.
84. Tazi A, Soler P, Hance AJ: Adult pulmonary Langerhans cell histiocytosis. Thorax 2000; 55: 405-16.
85. Lenoir S, Grenier P, Brauner MW, et al: Pulmonary lymphangiomyomatosis and tuberous sclerosis: comparison of radiographic and thin-section CT findings. Radiology 1990; 175: 329-34.
86. Brauner MW, Grenier P, Tijani K, et al: Pulmonary Langerhans cell histiocytosis: Evolution of lesions on CT scans. Radiology 1997; 204: 497-502.
87. Brauner MW, Grenier P, Mouelhi MM, Mompoint D, Lenoir S: Pulmonary histiocytosis X: evaluation with high-resolution CT. Radiology 1989; 172: 255-8.
88. Bonelli FS, Hartman TE, Swensen SJ, Sherrick A: Accuracy of high-resolution CT in diagnosing lung diseases. Am J Roentgenol 1998; 170: 1507-12.
89. Aberle DR, Hansell DM, Brown K, Tashkin DP: Lymphangiomyomatosis: CT, chest radiographic, and functional correlations. Radiology 1990; 176: 381-7.
90. Avila NA, Chen CC, Chu SC, et al: Pulmonary lymphangioleiomyomatosis: correlation of ventilation-perfusion scintigraphy, chest radiography, and CT with pulmonary function tests. Radiology 2000; 214: 441-6.
91. Avila NA, Dwyer AJ, Murphy-Johnson DV, Brooks P, Moss J: Lymphangioleiomyomatosis: correlation of qualitative and quantitative thin-section CT with pulmonary function tests and assessment of dependence on pleurodesis. Radiology 2002; 223: 189-97.
92. Auerswald U, Barth J, Magnussen H: Value of CD-1-positive cells in bronchoalveolar lavage fluid for the diagnosis of pulmonary histiocytosis X. Lung 1991; 169: 305-9.
93. Chollet S, Soler P, Dournovo P, Richard MS, Ferrans VJ, Basset F: Diagnosis of pulmonary histiocytosis X by immunodetection of Langerhans cells in bronchoalveolar lavage fluid. Am J Pathol 1984; 115: 225-32.
94. Casolaro MA, Bernaudin JF, Saltini C, Ferrans VJ, Crystal RG: Accumulation of Langerhans cells on the epithelial surface of the lower respiratory tract in normal subjects in association with cigarette smoking. Am Rev Respir Dis 1988; 137: 406-11.
95. Kahn HJ, Thorner PS: Monoclonal antibody MTI: a marker for Langerhans cell histiocytosis. Pediatr Pathol 1990; 10: 375-84.
96. Danel C, Israel-Biet D, Costabel U, et al: The clinical role of BAL in rare pulmonary diseases. Eur Respir Rev 1991; 2: 83-8.
97. Ye F, Huang SW, Dong HJ: Histiocytosis X. S-100 protein, peanut agglutinin, and transmission electron microscopy study. Am J Clin Pathol 1990; 94: 627-31.
98. Matthews TJ, Hornall D, Sheppard MN: Comparison of the use of antibodies to alpha smooth muscle actin and desmin in pulmonary lymphangioleiomyomatosis. J Clin Pathol 1993; 46: 479-80.
99. Hoon V, Thung SN, Kaneko M, Unger PD: HMB-45 reactivity in renal angiomyolipoma and lymphangioleiomyomatosis. Arch Pathol Lab Med 1994; 118: 732-4.
100. Muller NL, Chiles C, Kullnig P: Pulmonary lymphangiomyomatosis: Correlation of CT with radiographic and functional findings. Radiology 1990; 175: 335-9.
101. Powers MA, Askin FB, Cresson DH: Pulmonary eosinophilic granuloma. 25-year follow-up. Am Rev Respir Dis 1984; 129: 503-7.
102. Tazi A, Montcelly L, Bergeron A, Valere D, Battesti JP, Hance AJ: Relapsing nodular lesions in the course of adult pulmonary Langerhans cell histiocytosis. Am J Respir Crit Care Med 1998; 157: 2007-10.
103. Harari S, Brenot F, Barberis M. Simmoneau G: Advanced pulmonary Histiocytosis X is associated with severe pulmonary hypertension. Chest 1997; 111: 1142-44.
104. Harari S, Simonncau G, De Juli E, et al: Prognostic value of Pulmonary Hypertension in patients with Chronic Interstitial Lung Disease referred for Lung or Heart-lung Transplantation. J Heart Lung Transplantation 1997; 16: 460-3.
105. Fartoukh M, Humbert M, Capron F, et al: Severe pulmonary hypertension in histiocytosis X. Am J Respir Crit Care Med 2000; 161: 216-23.
106. Lombard CM, Medeiros LJ, Colby TV: Pulmonary histiocytosis X and carcinoma. Arch Pathol Lab Med 1987; 111: 339-41.
107. Tomashefski JF, Khiyami A, Kleinerman J: Neoplasms associated with pulmonary eosinophilic granuloma. Arch Pathol Lab Med 1991; 115: 499-506.
108. Burns BF, Colby TV, Dorfman RF: Langerhans cell granulomatosis (Histiocytosis X) associated with malignant lymphomas. Am J Surg Pathol 1983; 7: 529-31.
109. Neumann MP, Frizzera G: The coexistence of Langerhans cell granulomatosis and malignant lymphoma may take different forms: report of seven cases with a review of the literature. Hum Pathol 1986; 17: 1060-5.
110. Johnson SR, Whale CI, Hubbard RB, Lewis SA, Tattersfield AE: Survival and disease progression in UK patients with lymphangioleiomyomatosis. Thorax 2004; 59: 800-3.
111. Boehler A, Speich Rossi EW, et al: Lung transplantation for lymphangioleiomyomatosis. N Engl J Med 1996; 335: 1275-80.
112. Kenerson HL, Aicher LD, True LD, Yeung RS: Activated Mammalian target of Sirolimus pathway in the pathogenesis of tuberous sclerosis complex renal tumors. Cancer Res 2002; 62: 5645-50.