Indian Journal of Pathology and Microbiology
Home About us Instructions Submission Subscribe Advertise Contact e-Alerts Ahead Of Print Login 
Users Online: 3208
Print this page  Email this page Bookmark this page Small font sizeDefault font sizeIncrease font size

  Table of Contents    
Year : 2012  |  Volume : 55  |  Issue : 4  |  Page : 540-542
Congenital pulmonary airway malformation with mucoepidermoid carcinoma: A case report and review of literature

Department of Pathology, Apollo Hospitals, Chennai, India

Click here for correspondence address and email

Date of Web Publication4-Mar-2013


Congenital cystic adenomatoid malformations (CCAM) are rare developmental anomalies of the lung characterized by cysts of varying sizes and/or adenomatoid proliferation. Type I CCAM, the most frequent subtype, is associated with an increased incidence of malignant transformation, principally bronchioloalveolar carcinoma, with a reported incidence of around 1%. We report the first case of mucoepidermoid carcinoma arising in a type 1 CCAM.

Keywords: Congenital cystic adenomatoid malformations, lung, mucoepidermoid carcinoma

How to cite this article:
Harini N, Chakravarthy R, Archana L. Congenital pulmonary airway malformation with mucoepidermoid carcinoma: A case report and review of literature. Indian J Pathol Microbiol 2012;55:540-2

How to cite this URL:
Harini N, Chakravarthy R, Archana L. Congenital pulmonary airway malformation with mucoepidermoid carcinoma: A case report and review of literature. Indian J Pathol Microbiol [serial online] 2012 [cited 2023 Jan 31];55:540-2. Available from:

   Introduction Top

Congenital cystic adenomatoid malformations (CCAM), also referred to as congenital pulmonary airway disease, are bronco-pulmonary foregut malformations with an incidence of 1 in 25000-35000 pregnancies. [1] They comprise a heterogeneous group of cystic and noncystic lung lesions and are usually identified in neonates with rare cases presenting in adults. [2] Their exact pathogenesis is uncertain but there is evidence suggestive of arrested lung development between 35 and 55 days of gestation, possibly due to over expression of fibroblast growth factors in pulmonary mesenchymal cells. [3] The commonly used Stocker's classification includes five histologic subtypes, with type 1 CCAM being the most frequently encountered type. [1] There is a risk of subsequent malignant transformation in these lesions. Bronchioloalveolar carcinoma, rhabdomyosarcoma, pulmonary blastoma, and mucinous adenocarcinoma associated with CCAM have been described. [2],[3],[4],[5] We present the first case of congenital pulmonary airway malformation (CPAM) with mucoepidermoid carcinoma.

   Case Report Top

A 19-year-old male presented with complaints of cough and blood stained sputum of 10 days duration. There was no history of fever, loss of appetite, loss of weight or previous antituberculosis treatment. His sputum was negative for acid fast bacilli. A tuberculin sensitivity test was positive. A Chest X-ray showed left hilar enlargement [Figure 1]a. Computed tomography of the chest revealed, consolidation with air bronchogram in the left lingual and segmental collapse in the left upper lobe [Figure 1]b. The patient was started on category 1 antituberculosis treatment. A repeat chest X-ray performed after 6 months showed persistence of left hilar enlargement. Fiber-optic bronchoscopy revealed a mass occluding the left upper bronchus. A biopsy performed was reported at an outside hospital as squamous cell carcinoma. The patient underwent a left pneumonectomy with lymph node dissection. Macroscopic examination revealed a gray white tumor within a large bronchus. The surrounding lung parenchyma showed multiple cysts, ranging from 2 to 3 cm in size, filled with mucoid material.
Figure 1:

Click here to view

Microscopic examination revealed large cystic spaces lined by ciliated columnar epithelium [Figure 2]a and b with mucous cells and surrounding compressed alveolar spaces. One of the cystic spaces/bronchiolar structures contained a tumor composed of nests of oval cells, glands lined by mucinous epithelium with goblet cells and larger polygonal cells with a squamoid appearance [Figure 2]c-e. There were no areas of necrosis. Immunohistochemistry was performed; the tumor cells were positive for CK5/6, CK 7 [Figure 3]a, and Cyclin D1 [Figure 3]b and negative for TTF-1 [Figure 3]c and CK 20 [Figure 3]d. A diagnosis of low grade mucoepidermoid carcinoma, arising in conjunction with Type 1 CCAM, was made. The patient had an uneventful postoperative period and remains free of tumor for a year after surgery.
Figure 2:

Click here to view
Figure 3: (a) Immunoreactivity of tumor cells to anticytokeratin 7. (IHC, ×40) (b) Immunoreactivity of tumor cells to anticyclin D1. (IHC, ×40) (c) Nonreactivity of tumor cells to antithyroid transcription factor 1 antibody. (IHC, ×40), (d) Nonreactivity of the tumor cells to anticytokeratin 20 antibody. (IHC, ×40)

Click here to view

   Discussion Top

Early reports of CCAM date from 1897; the term CCAM was, however, introduced in 1949. Stocker's original classification included types 1, 2, and 3, while types 0 and 4 were added later. [1] This extended spectrum was based on the premise that each type represents malformation of successive groups of airways from proximal (bronchial, type 0) to distal (peripheral acinar, type 4). [1],[2],[4]

Type I lesions, the most common, are composed of single or multiple large cysts measuring 2-10 cm in diameter, with surrounding smaller cysts and compressed alveolar parenchyma. The cysts are lined by ciliated, pseudo stratified columnar epithelial cells. [1],[3],[4] Mucigenic differentiation is seen in about a third of the cases, with papillary tufts of mucinous cells projecting into the cystic spaces. [2],[4],[5] Several studies have shown that these mucinous cells represent the precursors of the mucinous bronchioloalveolar carcinomas described in association with CCAM, with a reported incidence of around 1%. Chromosomal aberrations and molecular abnormalities, including K-ras mutations detected in these mucinous cells are supportive of their preneoplastic nature. [6]

Rare cases of mucinous adenocarcinoma, some with described progression from bronchioloalveolar carcinoma have also been documented. There are no previous reports of a mucoepidermoid carcinoma in association with CCAM; mucoepidermoid carcinomas, however, have been described in patients with other congenital lung anomalies, including lobar agenesis [7] and hypoplastic lung. [8] Mucoepidermoid carcinomas of the lung are rare tumors considered to be salivary gland type neoplasms. They represent 0.1-0.2% of primary lung tumors and occur in patients with a wide age range of 3-78 years. A significant proportion of the cases have been described in children. The tumors are usually seen within larger airways and present as polypoid luminal masses. Histologically, three cell types are noted - mucinous cells, squamous cells, and intermediate cells. The mucous cells may be columnar, goblet cells, cuboidal, or clear cells. The squamous cells show intercellular ridges but keratin pearls are not present. The intermediate cells are polygonal with bland nuclei and eosinophilic cytoplasm. Calcification can also be noted. High grade lesions exhibit necrosis, nuclear pleomorphism, and solid sheets of squamous and intermediate cells. Most cases of bronchial mucoepidermoid carcinoma have been categorized as low grade with a 5 year survival of 95%. [9] Reciprocal chromosomal translocations have been demonstrated in these tumors, frequently involving chromosome 11, with resultant Cyclin D1 overexpression. [10]

The principal differential diagnoses include pulmonary adenocarcinoma and adenosquamous carcinoma. The endobronchial location, presence of three cell types and the immunohistochemical profile (CK 7, CK5/6 and Cyclin D1 positive, CK 20 and TTF1 negative) favor a diagnosis of mucoepidermoid carcinoma, as in our case.

Besides their propensity for malignant change, CCAMs also cause respiratory complications, impacting the quality of life. Therefore such lesions need to be excised whenever detected. A thorough understanding of the developmental biology and gene over-expression in this condition is required to enable efficient treatment.

In conclusion, our case is illustrative of the well described occurrence of mucus secreting cells in Type I CCAM, albeit with a hitherto undescribed mucoepidermoid carcinoma. These mucigenic cells probably represent the precursors of the adenocarcinomas described with Type 1 CCAM. Hence there is a need for a thorough examination of the surgical specimen in all cases of Type I CCAM for documenting presence of such cells and to exclude any concurrent malignancy.

   References Top

1.Stocker JT. Congenital pulmonary airway malformation: A new name and an expanded classification of congenital cystic adenomatoid malformation of the lung. Histopathology 2002;41:424-58.  Back to cited text no. 1
2.Gonzaga S, T. Henriques-Coelho, Davey M, Zoltick PW, Leite- Moreira AF, Correia- Pinto J, et al. Cystic adenomatoid malformation are induced by localized FGF-10 over expression in fetal rat lung. Am J Respir Cell Mol Biol 2008;39:346-55.  Back to cited text no. 2
3.Laberge JM, Flageole H, Pugash D, Khalife S, Blaie S, Filiatraut D, et al. Outcome of the prenatally diagnosed congenital cystic adenomatoid lung malformation: A Canadian experience. Fetal Diagn Ther 2001;16:178-86.  Back to cited text no. 3
4.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.  Back to cited text no. 4
5.Lantuejoul S, Nicholson AG, Sartori G, Piolat C, Danel C, Brabencova E, et al. Mucinous cells in type 1 pulmonary congenital cystic adenomatoid malformation as mucinous bronchioloalveolar carcinoma precursors. Am J Surg Pathol 2007;31:961-9.  Back to cited text no. 5
6.Stacher E, Ullmann R, Halbwedl I, Gogg-Kammerer M, Boccon-Gibod L, Nicholson AG et al. Atypical Goblet Cell Hyperplasia in a Congenital Cystic Adenomatoid Malformation as a Possible Preneoplasia for Pulmonary Adenocarcinoma in Childhood: A Genetic Analysis. Hum Pathol 2004;35:565-70.  Back to cited text no. 6
7.Pandya H, Matthews S. Case report: Mucoepidermoid carcinoma in a patient with congenital agenesis of the left upper lobe. Br J Radiol 2003;76:339-42.  Back to cited text no. 7
8.Martin-Ucar AE, Rocco G. Mucoepidermoid carcinoma in unilateral hypoplastic lung: A rare tumor in a rare condition. Ann Thorac Surg 2003;75:1020-1.  Back to cited text no. 8
9.Kitada B, Matsuda Y, Sato K, Hayashi S, Ishibashi K, Miyokawa N, et al. Mucoepidermoid carcinoma of the lung: A case report. J Cardiothorac Surg 2011;6:132.  Back to cited text no. 9
10.Barrett W, Heaps LS, Diaz S, Sharma P, Arbuckle S, Smith A. Mucoepidermoid carcinoma of the bronchus in a 15 year old girl with complex cytogenetic rearrangement involving 11q and over-expression of cyclin D1. Med Pediatr Oncol 2002;39:49-51.  Back to cited text no. 10

Correspondence Address:
Narayanappa Harini
Department of Pathology, Apollo Hospitals, Greams Road, Chennai
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.107807

Rights and Permissions


  [Figure 1], [Figure 2], [Figure 3]

This article has been cited by
1 Pulmonary mucoepidermoid carcinoma arising in a patient with Kartagener syndrome
Yoshiaki Nagai, Nobuyuki Koyama, Yuki Iwai, Hiroyoshi Tsubochi, Masahiro Hiruta, Yoshiko Mizushina, Shinichiro Koyama, Yuichi Ishikawa, Koichi Hagiwara
BMC Pulmonary Medicine. 2020; 20(1)
[Pubmed] | [DOI]
2 Giant Secondary Overgrowth of Type-1 Pulmonary Cystic Airway Malformation Upon Development of Anaplastic Lymphoma Kinase–Rearranged Adenocarcinoma
Giuseppe Pelosi,Andrea Vandoni,Alberto Meroni,Elisabetta Uslenghi,Fabio Callipo,Nikolaos Papanikolaou,Maria Cannone,Emanuela Balladore,Maria Emilia D’Amico,Sergio Harari,Maurizio Zompatori,Matteo Incarbone
Journal of Thoracic Oncology. 2019;
[Pubmed] | [DOI]
3 Congenital Pulmonary Airway Malformation – 19-Year Experience from a Tertiary Care Center in India
Hema Kini,Saraswathy Sreeram,Saumya Shukla,Sadashiva Rao,Kausalya Sahu,Deepa Adiga,Pooja Suresh
Fetal and Pediatric Pathology. 2019; : 1
[Pubmed] | [DOI]
4 Congenital pulmonary airway malformations: state-of-the-art review for pediatrician’s use
Claire Leblanc,Marguerite Baron,Emilie Desselas,Minh Hanh Phan,Alexis Rybak,Guillaume Thouvenin,Clara Lauby,Sabine Irtan
European Journal of Pediatrics. 2017; 176(12): 1559
[Pubmed] | [DOI]
5 Risk-reduction surgery in pediatric surgical oncology: A perspective
John A. Sandoval,Israel Fernandez-Pineda,Alpin D. Malkan
Journal of Pediatric Surgery. 2016; 51(4): 675
[Pubmed] | [DOI]
6 Bronchial Foreign Body Alerting of a Bronchial Tumor: The Need of a Follow-Up Radiography
Nahida El-Rifai,Samar Shahine,Hassan Sidani,Ali Sabeh Aion,Antoine Deschildre,Marie-Christine Copin
Case Reports in Pediatrics. 2016; 2016: 1
[Pubmed] | [DOI]
7 Congenital Pulmonary Airway Malformation in an Adult Male: A Case Report with Literature Review
Dipti Baral,Bindu Adhikari,Daniel Zaccarini,Raj Man Dongol,Birendra Sah
Case Reports in Pulmonology. 2015; 2015: 1
[Pubmed] | [DOI]
8 The argument for operative approach to asymptomatic lung lesions
Rashmi Singh,Mark Davenport
Seminars in Pediatric Surgery. 2015;
[Pubmed] | [DOI]
9 A case of mucoepidermoid carcinoma of the bronchus presented with hydropneumothorax in a child
Mehmet Kose,Mehmet Bilgin,Olgun Kontas,Sedat Ozturk,Selim Doganay,Mehmet Akif Ozdemir
Pediatric Pulmonology. 2014; 49(3): E86-E89
[Pubmed] | [DOI]
Niranjan J, Santosh K V, Shashidhar S, Shefali H K
Journal of Evidence Based Medicine and Healthcare. 2014; 1(14): 1733
[Pubmed] | [DOI]
11 A case of congenital pulmonary airway malformation type 4 with no symptoms
Yuka Kadomatsu,Harushi Ueno,Toshiki Okasaka,Shoichi Mori
The Journal of the Japanese Association for Chest Surgery. 2014; 28(6): 754
[Pubmed] | [DOI]


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Email Alert *
    Add to My List *
* Registration required (free)  

   Case Report
    Article Figures

 Article Access Statistics
    PDF Downloaded72    
    Comments [Add]    
    Cited by others 11    

Recommend this journal