DOI QR코드

DOI QR Code

Diagnosis and treatment of cystic lung disease

  • Park, Sanghoon (Paju SOK Internal Medical Clinic) ;
  • Lee, Eun Joo (Division of Respiratory and Critical Care Medicine, Department of Internal Medicine, Korea University College of Medicine)
  • Received : 2016.07.22
  • Accepted : 2017.02.24
  • Published : 2017.03.01

Abstract

Cystic lung disease (CLD) is a group of lung disorders characterized by the presence of multiple cysts, defined as air-filled lucencies or low-attenuating areas, bordered by a thin wall (usually < 2 mm). The recognition of CLDs has increased with the widespread use of computed tomography. This article addresses the mechanisms of cyst formation and the diagnostic approaches to CLDs. A number of assessment methods that can be used to confirm CLDs are discussed, including high-resolution computed tomography, pathologic approaches, and genetic/serologic markers, together with treatment modalities, including new therapeutic drugs currently being evaluated. The CLDs covered by this review are lymphangioleiomyomatosis, pulmonary Langerhans cell histiocytosis, Birt-Hogg-Dube syndrome, lymphocytic interstitial pneumonia/follicular bronchiolitis, and amyloidosis.

Keywords

References

  1. Hansell DM, Bankier AA, MacMahon H, McLoud TC, Muller NL, Remy J. Fleischner Society: glossary of terms for thoracic imaging. Radiology 2008;246:697-722. https://doi.org/10.1148/radiol.2462070712
  2. Park HY, Nam HS, Chung MP, et al. A nationwide survey of lymphangioleiomyomatosis in Korea: recent increase in newly diagnosed patients. J Korean Med Sci 2010;25:1182-1186. https://doi.org/10.3346/jkms.2010.25.8.1182
  3. Copley SJ, Wells AU, Hawtin KE, et al. Lung morphology in the elderly: comparative CT study of subjects over 75 years old versus those under 55 years old. Radiology 2009;251:566-573. https://doi.org/10.1148/radiol.2512081242
  4. Gupta N, Vassallo R, Wikenheiser-Brokamp KA, McCormack FX. Diffuse cystic lung disease: part I. Am J Respir Crit Care Med 2015;191:1354-1366. https://doi.org/10.1164/rccm.201411-2094CI
  5. Kwon YS, Han J, Jung KH, Kim JH, Koh WJ. Mycobacterium avium lung disease combined with a bronchogenic cyst in an immunocompetent young adult. Korean J Intern Med 2013;28:94-97. https://doi.org/10.3904/kjim.2013.28.1.94
  6. Dines DE. Diagnostic significance of pneumatocele of the lung. JAMA 1968;204:1169-1172. https://doi.org/10.1001/jama.1968.03140260009003
  7. Kikuchi E, Kinoshita I, Yamazaki K, et al. Epithelioid sarcoma presenting as pulmonary cysts with cancer antigen 125 expression. Respirology 2006;11:826-829. https://doi.org/10.1111/j.1440-1843.2006.00925.x
  8. Seaman DM, Meyer CA, Gilman MD, McCormack FX. Diffuse cystic lung disease at high-resolution CT. AJR Am J Roentgenol 2011;196:1305-1311. https://doi.org/10.2214/AJR.10.4420
  9. Clarke BE. Cystic lung disease. J Clin Pathol 2013;66:904-908. https://doi.org/10.1136/jclinpath-2012-201297
  10. Jeon SY, Yhim HY, Lee NR. Epithelioid sarcoma with spontaneous pneumothorax and massive pleural effusion. Korean J Intern Med 2016;31:191-193.
  11. Lee KN, Yoon SK, Choi SJ, Goo JM, Nam KJ. Cystic lung disease: a comparison of cystic size, as seen on expiratory and inspiratory HRCT scans. Korean J Radiol 2000;1:84-90. https://doi.org/10.3348/kjr.2000.1.2.84
  12. Ohdama S, Akagawa S, Matsubara O, Yoshizawa Y. Primary diffuse alveolar septal amyloidosis with multiple cysts and calcification. Eur Respir J 1996;9:1569-1571. https://doi.org/10.1183/09031936.96.09071569
  13. Masuzawa M, Mikami T, Numata Y, et al. Association of D2-40 and MMP-1 expression with cyst formation in lung metastatic lesions of cutaneous angiosarcoma on the scalp: immunohistochemical analysis of 23 autopsy cases. Hum Pathol 2013;44:2751-2759. https://doi.org/10.1016/j.humpath.2013.07.022
  14. Goncharova EA, Goncharov DA, Fehrenbach M, et al. Prevention of alveolar destruction and airspace enlargement in a mouse model of pulmonary lymphangioleiomyomatosis (LAM). Sci Transl Med 2012;4:154ra134.
  15. Kumasaka T, Hayashi T, Mitani K, et al. Characterization of pulmonary cysts in Birt-Hogg-Dube syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients. Histopathology 2014;65:100-110. https://doi.org/10.1111/his.12368
  16. Goncharova EA, Goncharov DA, James ML, et al. Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK. Cell Rep 2014;7:412-423. https://doi.org/10.1016/j.celrep.2014.03.025
  17. Trotman-Dickenson B. Cystic lung disease: achieving a radiologic diagnosis. Eur J Radiol 2014;83:39-46. https://doi.org/10.1016/j.ejrad.2013.11.027
  18. Ferreira Francisco FA, Soares Souza A Jr, Zanetti G, Marchiori E. Multiple cystic lung disease. Eur Respir Rev 2015;24:552-564. https://doi.org/10.1183/16000617.0046-2015
  19. Gupta N, Vassallo R, Wikenheiser-Brokamp KA, McCormack FX. Diffuse cystic lung disease: part II. Am J Respir Crit Care Med 2015;192:17-29. https://doi.org/10.1164/rccm.201411-2096CI
  20. Harari S, Torre O, Cassandro R, Moss J. The changing face of a rare disease: lymphangioleiomyomatosis. Eur Respir J 2015;46:1471-1485. https://doi.org/10.1183/13993003.00412-2015
  21. Badalian-Very G, Vergilio JA, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood 2010;116:1919-1923. https://doi.org/10.1182/blood-2010-04-279083
  22. Johnson SR, Cordier JF, Lazor R, et al. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J 2010;35:14-26. https://doi.org/10.1183/09031936.00076209
  23. Meraj R, Wikenheiser-Brokamp KA, Young LR, McCormack FX. Lymphangioleiomyomatosis: new concepts in pathogenesis, diagnosis, and treatment. Semin Respir Crit Care Med 2012;33:486-497. https://doi.org/10.1055/s-0032-1325159
  24. Samueli S, Abraham K, Dressler A, et al. Tuberous sclerosis complex: new criteria for diagnostic work-up and management. Wien Klin Wochenschr 2015;127:619-630. https://doi.org/10.1007/s00508-015-0758-y
  25. Tobino K, Johkoh T, Fujimoto K, et al. Computed tomographic features of lymphangioleiomyomatosis: evaluation in 138 patients. Eur J Radiol 2015;84:534-541. https://doi.org/10.1016/j.ejrad.2014.12.008
  26. Hayashi T, Kumasaka T, Mitani K, et al. Prevalence of uterine and adnexal involvement in pulmonary lymphangioleiomyomatosis: a clinicopathologic study of 10 patients. Am J Surg Pathol 2011;35:1776-1785. https://doi.org/10.1097/PAS.0b013e318235edbd
  27. Glasgow CG, Avila NA, Lin JP, Stylianou MP, Moss J. Serum vascular endothelial growth factor-D levels in patients with lymphangioleiomyomatosis reflect lymphatic involvement. Chest 2009;135:1293-1300. https://doi.org/10.1378/chest.08-1160
  28. Young LR, Vandyke R, Gulleman PM, et al. Serum vascular endothelial growth factor-D prospectively distinguishes lymphangioleiomyomatosis from other diseases. Chest 2010;138:674-681. https://doi.org/10.1378/chest.10-0573
  29. Davies DM, de Vries PJ, Johnson SR, et al. Sirolimus therapy for angiomyolipoma in tuberous sclerosis and sporadic lymphangioleiomyomatosis: a phase 2 trial. Clin Cancer Res 2011;17:4071-4081. https://doi.org/10.1158/1078-0432.CCR-11-0445
  30. McCormack FX, Inoue Y, Moss J, et al. Efficacy and safety of sirolimus in lymphangioleiomyomatosis. N Engl J Med 2011;364:1595-1606. https://doi.org/10.1056/NEJMoa1100391
  31. Taveira-DaSilva AM, Hathaway O, Stylianou M, Moss J. Changes in lung function and chylous effusions in patients with lymphangioleiomyomatosis treated with sirolimus. Ann Intern Med 2011;154:797-805. https://doi.org/10.7326/0003-4819-154-12-201106210-00007
  32. Bissler JJ, Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet 2013;381:817-824. https://doi.org/10.1016/S0140-6736(12)61767-X
  33. Goldberg HJ, Harari S, Cottin V, et al. Everolimus for the treatment of lymphangioleiomyomatosis: a phase II study. Eur Respir J 2015;46:783-794. https://doi.org/10.1183/09031936.00210714
  34. Hammes SR, Krymskaya VP. Targeted approaches toward understanding and treating pulmonary lymphangioleiomyomatosis (LAM). Horm Cancer 2013;4:70-77. https://doi.org/10.1007/s12672-012-0128-4
  35. Moir LM. Lymphangioleiomyomatosis: current understanding and potential treatments. Pharmacol Ther 2016;158:114-124. https://doi.org/10.1016/j.pharmthera.2015.12.008
  36. Jawad H, Walker CM, Wu CC, Chung JH. Cystic interstitial lung diseases: recognizing the common and uncommon entities. Curr Probl Diagn Radiol 2014;43:115-127. https://doi.org/10.1067/j.cpradiol.2014.01.001
  37. Bernstrand C, Cederlund K, Ashtrom L, Henter JI. Smoking preceded pulmonary involvement in adults with Langerhans cell histiocytosis diagnosed in childhood. Acta Paediatr 2000;89:1389-1392. https://doi.org/10.1111/j.1651-2227.2000.tb00772.x
  38. 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;137:406-411. https://doi.org/10.1164/ajrccm/137.2.406
  39. Yousem SA, Colby TV, Chen YY, Chen WG, Weiss LM. Pulmonary Langerhans' cell histiocytosis: molecular analysis of clonality. Am J Surg Pathol 2001;25:630-636. https://doi.org/10.1097/00000478-200105000-00010
  40. Suri HS, Yi ES, Nowakowski GS, Vassallo R. Pulmonary langerhans cell histiocytosis. Orphanet J Rare Dis 2012;7:16. https://doi.org/10.1186/1750-1172-7-16
  41. Sahm F, Capper D, Preusser M, et al. BRAFV600E mutant protein is expressed in cells of variable maturation in Langerhans cell histiocytosis. Blood 2012;120:e28-e34. https://doi.org/10.1182/blood-2012-06-429597
  42. Tazi A, Marc K, Dominique S, et al. Serial computed tomography and lung function testing in pulmonary Langerhans' cell histiocytosis. Eur Respir J 2012;40:905-912. https://doi.org/10.1183/09031936.00210711
  43. Brauner MW, Grenier P, Mouelhi MM, Mompoint D, Lenoir S. Pulmonary histiocytosis X: evaluation with high-resolution CT. Radiology 1989;172:255-258. https://doi.org/10.1148/radiology.172.1.2787036
  44. Lorillon G, Bergeron A, Detourmignies L, et al. Cladribine is effective against cystic pulmonary Langerhans cell histiocytosis. Am J Respir Crit Care Med 2012;186:930-932. https://doi.org/10.1164/ajrccm.186.9.930
  45. Hyman DM, Puzanov I, Subbiah V, et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med 2015;373:726-736. https://doi.org/10.1056/NEJMoa1502309
  46. Le Pavec J, Lorillon G, Jais X, et al. Pulmonary Langerhans cell histiocytosis-associated pulmonary hypertension: clinical characteristics and impact of pulmonary arterial hypertension therapies. Chest 2012;142:1150-1157. https://doi.org/10.1378/chest.11-2490
  47. Gupta N, Seyama K, McCormack FX. Pulmonary manifestations of Birt-Hogg-Dube syndrome. Fam Cancer 2013;12:387-396. https://doi.org/10.1007/s10689-013-9660-9
  48. Agarwal PP, Gross BH, Holloway BJ, Seely J, Stark P, Kazerooni EA. Thoracic CT findings in Birt-Hogg-Dube syndrome. AJR Am J Roentgenol 2011;196:349-352. https://doi.org/10.2214/AJR.10.4757
  49. Seo M, Lim DH, Song JS, Park CS, Chae EJ, Song JW. Two cases of Birt-Hogg-Dube syndrome with pulmonary cysts. Korean J Med 2014;87:477-483. https://doi.org/10.3904/kjm.2014.87.4.477
  50. Dal Sasso AA, Belem LC, Zanetti G, et al. Birt-Hogg-Dube syndrome: state-of-the-art review with emphasis on pulmonary involvement. Respir Med 2015;109:289-296. https://doi.org/10.1016/j.rmed.2014.11.008
  51. Stamatakis L, Metwalli AR, Middelton LA, Marston Linehan W. Diagnosis and management of BHD-associated kidney cancer. Fam Cancer 2013;12:397-402. https://doi.org/10.1007/s10689-013-9657-4
  52. Tian X, Yi ES, Ryu JH. Lymphocytic interstitial pneumonia and other benign lymphoid disorders. Semin Respir Crit Care Med 2012;33:450-461. https://doi.org/10.1055/s-0032-1325156
  53. Carrillo J, Restrepo CS, Rosado de Christenson M, Ojeda Leon P, Lucia Rivera A, Koss MN. Lymphoproliferative lung disorders: a radiologic-pathologic overview. Part I: reactive disorders. Semin Ultrasound CT MR 2013;34:525-534. https://doi.org/10.1053/j.sult.2013.05.002
  54. Richards JC, Lynch DA, Chung JH. Cystic and nodular lung disease. Clin Chest Med 2015;36:299-312. https://doi.org/10.1016/j.ccm.2015.02.011
  55. Cordier JF. Pulmonary amyloidosis in hematological disorders. Semin Respir Crit Care Med 2005;26:502-513. https://doi.org/10.1055/s-2005-922033
  56. Rajagopala S, Singh N, Gupta K, Gupta D. Pulmonary amyloidosis in Sjogren's syndrome: a case report and systematic review of the literature. Respirology 2010;15:860-866. https://doi.org/10.1111/j.1440-1843.2010.01772.x
  57. Zamora AC, White DB, Sykes AM, et al. Amyloid-associated cystic lung disease. Chest 2016;149:1223-1233. https://doi.org/10.1378/chest.15-1539

Cited by

  1. Zysten in der Lunge : Praktische Anleitung zur Differenzialdiagnose vol.59, pp.5, 2017, https://doi.org/10.1007/s00117-019-0525-6
  2. Imaging Cystic Lung Disease vol.8, pp.3, 2017, https://doi.org/10.1007/s13665-019-00227-w