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Congenital Lung Malformations

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Rickham's Neonatal Surgery

Abstract

The development of the foregut, including the division of the esophagus from the tracheobronchial tree and the patterning and differentiation of the pulmonary anlage remains incompletely understood. Nonetheless, the last decade has made remarkable progress toward developing a more sophisticated model of the dynamic interactions of endoderm and mesoderm that give rise to the tracheobronchial tree, lung, and esophagus. Congenital cystic lesions such as congenital pulmonary airway malformation (alternatively congenital pulmonary adenomatoid malformation) (CPAM), bronchopulmonary sequestration (BPS), bronchogenic cysts, foregut duplications, and congenital lobar emphysema (CLE) arise from discrete perturbations within this interaction.

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References

  1. Adzick NS. Management of fetal lung lesions. Clin Perinatol. 2009;36:363–76. x

    Article  Google Scholar 

  2. Azizkhan RG, Crombleholme TM. Congenital cystic lung disease: contemporary antenatal and postnatal management. Pediatr Surg Int. 2008;24:643–57.

    Article  Google Scholar 

  3. Correia-Pinto J, Gonzaga S, Huang Y, Rottier R. Congenital lung lesions—underlying molecular mechanisms. Semin Pediatr Surg. 2010;19:171–9.

    Article  Google Scholar 

  4. Carlson B. Digestive and respiratory systems and body cavities. Human embryology and developmental biology. 4th ed. Philadelphia: Mosby Elsevier; 2009. p. 384.

    Google Scholar 

  5. Serls AE, Doherty S, Parvatiyar P, Wells JM, Deutsch GH. Different thresholds of fibroblast growth factors pattern the ventral foregut into liver and lung. Development. 2005;132:35–47.

    Article  CAS  Google Scholar 

  6. Mendelsohn C, Lohnes D, Décimo D, et al. Function of the retinoic acid receptors (RARs) during development (II). Multiple abnormalities at various stages of organogenesis in RAR double mutants. Development. 1994;120:2749–71.

    CAS  Google Scholar 

  7. Krumlauf R. Hox genes in vertebrate development. Cell. 1994;78:191–201.

    Article  CAS  Google Scholar 

  8. Volpe MV, Chung E, Ulm JP, et al. Aberrant cell adhesion molecule expression in human bronchopulmonary sequestration and congenital cystic adenomatoid malformation. Am J Physiol Lung Cell Mol Physiol. 2009;297:L143–52.

    Article  CAS  Google Scholar 

  9. Volpe MV, Pham L, Lessin M, et al. Expression of Hoxb-5 during human lung development and in congenital lung malformations. Birth Defects Res A Clin Mol Teratol. 2003;67:550–6.

    Article  CAS  Google Scholar 

  10. Jancelewicz T, Nobuhara K, Hawgood S. Laser microdissection allows detection of abnormal gene expression in cystic adenomatoid malformation of the lung. J Pediatr Surg. 2008;43:1044–51.

    Article  Google Scholar 

  11. Wagner AJ, Stumbaugh A, Tigue Z, et al. Genetic analysis of congenital cystic adenomatoid malformation reveals a novel pulmonary gene: fatty acid binding protein-7 (brain type). Pediatr Res. 2008;64:11–6.

    Article  CAS  Google Scholar 

  12. Clements BS, Warner JO. Pulmonary sequestration and related congenital bronchopulmonary-vascular malformations: nomenclature and classification based on anatomical and embryological considerations. Thorax. 1987;42:401–8.

    Article  CAS  Google Scholar 

  13. Gonzaga S, Henriques-Coelho T, Davey M, et al. Cystic adenomatoid malformations are induced by localized FGF10 overexpression in fetal rat lung. Am J Respir Cell Mol Biol. 2008;39:346–55.

    Article  CAS  Google Scholar 

  14. Simonet WS, DeRose ML, Bucay N, et al. Pulmonary malformation in transgenic mice expressing human keratinocyte growth factor in the lung. Proc Natl Acad Sci U S A. 1995;92:12461–5.

    Article  CAS  Google Scholar 

  15. Clark JC, Tichelaar JW, Wert SE, et al. FGF-10 disrupts lung morphogenesis and causes pulmonary adenomas in vivo. Am J Physiol Lung Cell Mol Physiol. 2001;280:L705–15.

    Article  CAS  Google Scholar 

  16. White AC, Xu J, Yin Y, Smith C, Schmid G, Ornitz DM. FGF9 and SHH signaling coordinate lung growth and development through regulation of distinct mesenchymal domains. Development. 2006;133:1507–17.

    Article  CAS  Google Scholar 

  17. Gontan C, de Munck A, Vermeij M, Grosveld F, Tibboel D, Rottier R. Sox2 is important for two crucial processes in lung development: branching morphogenesis and epithelial cell differentiation. Dev Biol. 2008;317:296–309.

    Article  CAS  Google Scholar 

  18. Bratu I, Flageole H, Chen MF, Di Lorenzo M, Yazbeck S, Laberge JM. The multiple facets of pulmonary sequestration. J Pediatr Surg. 2001;36:784–90.

    Article  CAS  Google Scholar 

  19. Liechty KW, Crombleholme TM, Quinn TM, Cass DL, Flake AW, Adzick NS. Elevated platelet-derived growth factor-B in congenital cystic adenomatoid malformations requiring fetal resection. J Pediatr Surg. 1999;34:805–9. discussion 9–10

    Article  CAS  Google Scholar 

  20. Sueyoshi R, Okazaki T, Urushihara N, et al. Managing prenatally diagnosed asymptomatic congenital cystic adenomatoid malformation. Pediatr Surg Int. 2008;24:1111–5.

    Article  Google Scholar 

  21. Komori K, Kamagata S, Hirobe S, et al. Radionuclide imaging study of long-term pulmonary function after lobectomy in children with congenital cystic lung disease. J Pediatr Surg. 2009;44:2096–100.

    Article  Google Scholar 

  22. Nasr A, Himidan S, Pastor AC, Taylor G, Kim PC. Is congenital cystic adenomatoid malformation a premalignant lesion for pleuropulmonary blastoma? J Pediatr Surg. 2010;45:1086–9.

    Article  Google Scholar 

  23. Miller JA, Corteville JE, Langer JC. Congenital cystic adenomatoid malformation in the fetus: natural history and predictors of outcome. J Pediatr Surg. 1996;31:805–8.

    Article  CAS  Google Scholar 

  24. Lim FY, Crombleholme TM, Hedrick HL, et al. Congenital high airway obstruction syndrome: natural history and management. J Pediatr Surg. 2003;38:940–5.

    Article  Google Scholar 

  25. Sauvat F, Michel JL, Benachi A, Emond S, Revillon Y. Management of asymptomatic neonatal cystic adenomatoid malformations. J Pediatr Surg. 2003;38:548–52.

    Article  Google Scholar 

  26. Ho PT, Estroff JA, Kozakewich H, et al. Prenatal detection of neuroblastoma: a ten-year experience from the Dana-Farber Cancer Institute and Children's Hospital. Pediatrics. 1993;92:358–64.

    CAS  Google Scholar 

  27. Laberge JM, Flageole H, Pugash D, et al. Outcome of the prenatally diagnosed congenital cystic adenomatoid lung malformation: a Canadian experience. Fetal Diagn Ther. 2001;16:178–86.

    Article  CAS  Google Scholar 

  28. Stocker JT, Madewell JE, Drake RM. Congenital cystic adenomatoid malformation of the lung. Classification and morphologic spectrum. Hum Pathol. 1977;8:155–71.

    Article  CAS  Google Scholar 

  29. Stocker JT. Cystic lung disease in infants and children. Fetal Pediatr Pathol. 2009;28:155–84.

    Article  Google Scholar 

  30. Cloutier MM, Schaeffer DA, Hight D. Congenital cystic adenomatoid malformation. Chest. 1993;103:761–4.

    Article  CAS  Google Scholar 

  31. Aziz D, Langer JC, Tuuha SE, Ryan G, Ein SH, Kim PC. Perinatally diagnosed asymptomatic congenital cystic adenomatoid malformation: to resect or not? J Pediatr Surg. 2004;39:329–34. discussion 34

    Article  Google Scholar 

  32. Saltzman DH, Adzick NS, Benacerraf BR. Fetal cystic adenomatoid malformation of the lung: apparent improvement in utero. Obstet Gynecol. 1988;71:1000–2.

    CAS  Google Scholar 

  33. MacGillivray TE, Harrison MR, Goldstein RB, Adzick NS. Disappearing fetal lung lesions. J Pediatr Surg. 1993;28:1321–4. discussion 4–5

    Article  CAS  Google Scholar 

  34. Crombleholme TM, Coleman B, Hedrick H, et al. Cystic adenomatoid malformation volume ratio predicts outcome in prenatally diagnosed cystic adenomatoid malformation of the lung. J Pediatr Surg. 2002;37:331–8.

    Article  Google Scholar 

  35. Chao A, Monoson RF. Neonatal death despite fetal therapy for cystic adenomatoid malformation. A case report. J Reprod Med. 1990;35:655–7.

    CAS  Google Scholar 

  36. Wilson RD, Baxter JK, Johnson MP, et al. Thoracoamniotic shunts: fetal treatment of pleural effusions and congenital cystic adenomatoid malformations. Fetal Diagn Ther. 2004;19:413–20.

    Article  Google Scholar 

  37. Merchant AM, Peranteau W, Wilson RD, et al. Postnatal chest wall deformities after fetal thoracoamniotic shunting for congenital cystic adenomatoid malformation. Fetal Diagn Ther. 2007;22:435–9.

    Article  Google Scholar 

  38. Peranteau WH, Boelig MM, Khalek N, et al. Effect of single and multiple courses of maternal betamethasone on prenatal congenital lung lesion growth and fetal survival. J Pediatr Surg. 2016;51:28–32.

    Article  Google Scholar 

  39. Tsao K, Hawgood S, Vu L, et al. Resolution of hydrops fetalis in congenital cystic adenomatoid malformation after prenatal steroid therapy. J Pediatr Surg. 2003;38:508–10.

    Article  Google Scholar 

  40. Creasy R. Mirror syndromes. In: Goodlin R, editor. Care of the fetus. New York: Masson; 1979. p. 48–50.

    Google Scholar 

  41. Naito Y, Beres A, Lapidus-Krol E, Ratjen F, Langer JC. Does earlier lobectomy result in better long-term pulmonary function in children with congenital lung anomalies? A prospective study. J Pediatr Surg. 2012;47:852–6.

    Article  Google Scholar 

  42. Ioachimescu OC, Mehta AC. From cystic pulmonary airway malformation, to bronchioloalveolar carcinoma and adenocarcinoma of the lung. Eur Respir J. 2005;26:1181–7.

    Article  CAS  Google Scholar 

  43. de Perrot M, Pache JC, Spiliopoulos A. Carcinoma arising in congenital lung cysts. Thorac Cardiovasc Surg. 2001;49:184–5.

    Article  Google Scholar 

  44. Ramos SG, Barbosa GH, Tavora FR, et al. Bronchioloalveolar carcinoma arising in a congenital pulmonary airway malformation in a child: case report with an update of this association. J Pediatr Surg. 2007;42:E1–4.

    Article  Google Scholar 

  45. Ueda K, Gruppo R, Unger F, Martin L, Bove K. Rhabdomyosarcoma of lung arising in congenital cystic adenomatoid malformation. Cancer. 1977;40:383–8.

    Article  CAS  Google Scholar 

  46. Ozcan C, Celik A, Ural Z, Veral A, Kandiloğlu G, Balik E. Primary pulmonary rhabdomyosarcoma arising within cystic adenomatoid malformation: a case report and review of the literature. J Pediatr Surg. 2001;36:1062–5.

    Article  CAS  Google Scholar 

  47. MacSweeney F, Papagiannopoulos K, Goldstraw P, Sheppard MN, Corrin B, Nicholson AG. An assessment of the expanded classification of congenital cystic adenomatoid malformations and their relationship to malignant transformation. Am J Surg Pathol. 2003;27:1139–46.

    Article  Google Scholar 

  48. Stolar C, Berdon W, Reyes C, et al. Right pneumonectomy syndrome: a lethal complication of lung resection in a newborn with cystic adenomatoid malformation. J Pediatr Surg. 1988;23:1180–3.

    Article  CAS  Google Scholar 

  49. Rothenberg SS, Shipman K, Kay S, et al. Thoracoscopic segmentectomy for congenital and acquired pulmonary disease: a case for lung-sparing surgery. J Laparoendosc Adv Surg Tech A. 2014;24:50–4.

    Article  Google Scholar 

  50. Kosloske AM, Williamson SL. An expandable prosthesis for stabilization of the infant mediastinum following pneumonectomy. J Pediatr Surg. 1992;27:1521–2.

    Article  CAS  Google Scholar 

  51. Usui N, Kamata S, Sawai T, et al. Outcome predictors for infants with cystic lung disease. J Pediatr Surg. 2004;39:603–6.

    Article  Google Scholar 

  52. Gross E, Chen MK, Lobe TE, Nuchtern JG, Rao BN. Infradiaphragmatic extralobar pulmonary sequestration masquerading as an intra-abdominal, suprarenal mass. Pediatr Surg Int. 1997;12:529–31.

    Article  CAS  Google Scholar 

  53. Corbett HJ, Humphrey GM. Pulmonary sequestration. Paediatr Respir Rev. 2004;5:59–68.

    Article  Google Scholar 

  54. Davenport M, Warne SA, Cacciaguerra S, Patel S, Greenough A, Nicolaides K. Current outcome of antenally diagnosed cystic lung disease. J Pediatr Surg. 2004;39:549–56.

    Article  Google Scholar 

  55. Conran RM, Stocker JT. Extralobar sequestration with frequently associated congenital cystic adenomatoid malformation, type 2: report of 50 cases. Pediatr Dev Pathol. 1999;2:454–63.

    Article  CAS  Google Scholar 

  56. Orpen N, Goodman R, Bowker C, Lakhoo K. Intralobar pulmonary sequestration with congenital cystic adematous malformation and rhabdomyomatous dysplasia. Pediatr Surg Int. 2003;19:610–1.

    Article  CAS  Google Scholar 

  57. Srikanth MS, Ford EG, Stanley P, Mahour GH. Communicating bronchopulmonary foregut malformations: classification and embryogenesis. J Pediatr Surg. 1992;27:732–6.

    Article  CAS  Google Scholar 

  58. White JJ, Donahoo JS, Ostrow PT, Murphy J, Haller JA. Cardiovascular and respiratory manifestations of pulmonary sequestration in childhood. Ann Thorac Surg. 1974;18:286–94.

    Article  CAS  Google Scholar 

  59. Adzick NS, Harrison MR, Crombleholme TM, Flake AW, Howell LJ. Fetal lung lesions: management and outcome. Am J Obstet Gynecol. 1998;179:884–9.

    Article  CAS  Google Scholar 

  60. Dolkart LA, Reimers FT, Helmuth WV, Porte MA, Eisinger G. Antenatal diagnosis of pulmonary sequestration: a review. Obstet Gynecol Surv. 1992;47:515–20.

    Article  CAS  Google Scholar 

  61. Collin PP, Desjardins JG, Khan AH. Pulmonary sequestration. J Pediatr Surg. 1987;22:750–3.

    Article  CAS  Google Scholar 

  62. Olutoye OO, Coleman BG, Hubbard AM, Adzick NS. Prenatal diagnosis and management of congenital lobar emphysema. J Pediatr Surg. 2000;35:792–5.

    Article  CAS  Google Scholar 

  63. Azzie G, Beasley S. Diagnosis and treatment of foregut duplications. Semin Pediatr Surg. 2003;12:46–54.

    Article  Google Scholar 

  64. Carachi R, Azmy A. Foregut duplications. Pediatr Surg Int. 2002;18:371–4.

    Article  Google Scholar 

  65. Wright CD. Mediastinal tumors and cysts in the pediatric population. Thorac Surg Clin. 2009;19:47–61. vi

    Article  Google Scholar 

  66. Suen HC, Mathisen DJ, Grillo HC, et al. Surgical management and radiological characteristics of bronchogenic cysts. Ann Thorac Surg. 1993;55:476–81.

    Article  CAS  Google Scholar 

  67. Holcomb GW, Gheissari A, O’Neill JA, Shorter NA, Bishop HC. Surgical management of alimentary tract duplications. Ann Surg. 1989;209:167–74.

    Article  Google Scholar 

  68. Haddon MJ, Bowen A. Bronchopulmonary and neurenteric forms of foregut anomalies. Imaging for diagnosis and management. Radiol Clin N Am. 1991;29:241–54.

    CAS  Google Scholar 

  69. Adzick NS, Farmer DL. Cysts of the lungs and mediastinum. In: Grosfeld J, editor. Pediatric surgery. 6th ed. Philadelphia: Mosby; 2006.

    Google Scholar 

  70. Superina RA, Ein SH, Humphreys RP. Cystic duplications of the esophagus and neurenteric cysts. J Pediatr Surg. 1984;19:527–30.

    Article  CAS  Google Scholar 

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Correspondence to Emily R. Christison-Lagay MD .

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Christison-Lagay, E.R., Kim, P.C. (2018). Congenital Lung Malformations. In: Losty, P., Flake, A., Rintala, R., Hutson, J., lwai, N. (eds) Rickham's Neonatal Surgery. Springer, London. https://doi.org/10.1007/978-1-4471-4721-3_22

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  • DOI: https://doi.org/10.1007/978-1-4471-4721-3_22

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