Pediatric and Developmental Pathology

, Volume 7, Issue 6, pp 661–666 | Cite as

Congenital Pulmonary Airway Malformation (Congenital Cystic Adenomatoid Malformation) with Multiple Extrapulmonary Anomalies: Autopsy Report of a Fetus at 19 Weeks of Gestation

  • Truc T. Pham
  • Kurt Benirschke
  • Eliezer Masliah
  • J. Thomas Stocker
  • Eunhee S. YiEmail author
Case report


Congenital pulmonary airway malformation, or congenital cystic adenomatoid malformation, is postulated to be a disorder of pulmonary airway morphogenesis and encompasses 5 different types with distinct levels or stages of tracheobronchial development. We present a unique case of type 2 congenital pulmonary airway malformation with a previously undocumented combination of multiple extrapulmonary anomalies, featuring ipsilateral multicystic renal dysgenesis, contralateral renal agenesis, and ovarian germ cell hypoplasia, diagnosed in a 19-week gestational age fetus by autopsy. Epithelial cells comprising the pulmonary lesions were positive for thyroid transcription factor-1, surfactant protein-B, and cytokeratin-7 but negative for cytokeratin-20 immunostainings, with the pattern seen in normal terminal bronchioles. Chromosomal analysis showed a normal female karyotype, despite a high estimated risk for Down syndrome suggested by the low maternal serum α-fetoprotein level.


congenital pulmonary airway malformation congenital cystic adenomatoid malformation thyroid transcription factor-1 surfactant cytokeratin-7 cytokeratin-20 renal agenesis and dysgenesis α-fetoprotein 


  1. 1.
    Laberge, JM, Flageole, H, Pugash, D, Khalife, S, Blair, G, Filiatrault, D,  et al. 2001Outcome of the prenatally diagnosed congenital cystic adenomatoid lung malformation: a Canadian experienceFetal Diagn Ther16178186CrossRefPubMedGoogle Scholar
  2. 2.
    Rosado-de-Christenson, ML, Stocker, JT 1991Congenital cystic adenomatoid malformationRadiographics11865886PubMedGoogle Scholar
  3. 3.
    Stocker, JT, Madewell, JE, Drake, RM 1977Congenital cystic adenomatoid malformation of the lung. Classification and morphologic spectrumHum pathol8155171PubMedGoogle Scholar
  4. 4.
    Stocker, JT 2002Congenital pulmonary airway malformation: a new name and an expanded classification of congenital cystic adenomatoid malformations of the lungHistopathology41424431Google Scholar
  5. 5.
    Pumberger, W, Moroder, W, Wiesbauer, P 2001Intraabdominal extralobar pulmonary sequestration exhibiting cystic adenomatoid malformation: prenatal diagnosis and characterization of a left suprarenal mass in the newbornAbdom Imaging262831CrossRefPubMedGoogle Scholar
  6. 6.
    Winters, WD, Effmann, EL, Nghiem, HV, Nyberg, DA 1997Congenital masses of the lung: changes in cross-sectional area during gestationJ Clin Ultrasound25372377PubMedGoogle Scholar
  7. 7.
    Miller, JA, Corteville, JE, Langer, JC 1996Congenital cystic adenomatoid malformation in the fetus: natural history and predictors of outcomeJ Pediatr Surg31805808CrossRefPubMedGoogle Scholar
  8. 8.
    Conran, RM, Stocker, JT 1999Extralobar sequestration with frequently associated congenital cystic adenomatoid malformation, type 2: report of 50 casesPediatr Dev Pathol2454463CrossRefPubMedGoogle Scholar
  9. 9.
    Krous, HF, Harper, PE, Perlman, M 1980Congenital cystic adenomatoid malformation in bilateral renal agenesis. Its mitigation of Potter’s syndromeArch Pathol Lab Med104368370PubMedGoogle Scholar
  10. 10.
    Duncombe, GJ, Dickinson, JE, Kikiros, CS 2002Prenatal diagnosis and management of congenital cystic adenomatoid malformation of the lungAm J Obstet Gynecol187950954CrossRefPubMedGoogle Scholar
  11. 11.
    Morotti, RA, Gutierrez, MC, Askin, F, Profitt, SA, Wert, SE, Whitsett, JA,  et al. 2000Expression of thyroid transcription factor-1 in congenital cystic adenomatoid malformation of the lungPediatr Dev Pathol3455461CrossRefPubMedGoogle Scholar
  12. 12.
    Morotti, RA, Cangiarella, J, Gutierrez, MC, Jagirdar, J, Askin, F, Singh, G,  et al. 1999Congenital cystic adenomatoid malformation of the lung (CCAM): evaluation of the cellular componentsHum pathol30618625PubMedGoogle Scholar
  13. 13.
    Chen, CP, Chuang, CY, Chang, YC, Tzen, CY 1997Type III congenital cystic adenomatoid malformation of the lung detected through maternal serum screening positive for Down’s syndromeActa Obstet Gynecol Scand76378379PubMedGoogle Scholar
  14. 14.
    Bromley, B, Parad, R, Estroff, JA, Benacerraf, BR 1995Fetal lung masses: prenatal course and outcomeUltrasound Med14927936PubMedGoogle Scholar
  15. 15.
    MacSweeney, F, Papagiannopoulos, K, Goldstraw, P, Sheppard, MN, Corrin, B, Nicholson, AG 2003An assessment of the expanded classification of congenital cystic adenomatoid malformations and their relationship to malignant transformationAm J Surg Pathol2711291146CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, Inc. 2004

Authors and Affiliations

  • Truc T. Pham
    • 1
  • Kurt Benirschke
    • 1
  • Eliezer Masliah
    • 1
  • J. Thomas Stocker
    • 2
  • Eunhee S. Yi
    • 1
    Email author
  1. 1.Department of PathologyUniversity of California San Diego, School of MedicineSan DiegoUSA
  2. 2.Department of PathologyUniformed Services University of the Health SciencesBethesdaUSA

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