Congenital cystic adenomatoid malformations of the lung: an epithelial transcriptomic approach

Background The pathophysiology of congenital cystic adenomatoid malformations (CCAM) of the lung remains poorly understood. Aim This study aimed to identify more precisely the molecular mechanisms limited to a compartment of lung tissue, through a transcriptomic analysis of the epithelium of macrocystic forms. Methods Tissue fragments displaying CCAM were obtained during planned surgical resections. Epithelial mRNA was obtained from cystic and normal areas after laser capture microdissection (LCM). Transcriptomic analyses were performed and the results were confirmed by RT-PCR and immunohistochemistry in independent samples. Results After controlling for RNA quality, we analysed the transcriptomes of six cystic areas and five control areas. In total, 393 transcripts were differentially expressed in the epithelium, between CCAM and control areas. The most highly redundant genes involved in biological functions and signalling pathways differentially expressed between CCAM and control epithelium included TGFB2, TGFBR1, and MAP 2 K1. These genes were considered particularly relevant as they have been implicated in branching morphogenesis. RT-qPCR analysis confirmed in independent samples that TGFBR1 was more strongly expressed in CCAM than in control tissues (p < 0.03). Immunohistochemistry analysis showed TGFBR1 (p = 0.0007) and TGFB2 (p < 0.02) levels to be significantly higher in the epithelium of CCAM than in that of control tissues. Conclusions This compartmentalised transcriptomic analysis of the epithelium of macrocystic lung malformations identified a dysregulation of TGFB signalling at the mRNA and protein levels, suggesting a possible role of this pathway in CCAM pathogenesis. Trial registration ClinicalTrials.gov Identifier: NCT01732185.

Congenital cystic adenomatoid malformation in adults, presenting as a single cyst

Congenital cystic adenomatoid malformations are lung anomalies usually detected prenatally or in newborns and infants. Type 1 congenital cystic adenomatoid malformations appears as a multicystic lesion, with cysts up to 2 cm in diameter, or as a single large cyst. In the latter case, when detected in adults, the preoperative diagnosis is challenging because congenital cystic adenomatoid malformations can be confused with other more common lesions. We describe two cases of uniloculated type 1 congenital cystic adenomatoid malformation in adults. In both cases, the preoperative clinical diagnosis was missed and the patients were surgically treated with lung-sparing cyst resections.

Congenital Pulmonary Airway Malformation (CPAM) follow up from 23 week of gestation

The development of the respiratory system starts at 3 weeks of gestation, and aberrations in developmental processes may result in structural abnormalities collectively referred to as bronchopulmonary foregut malformations. These lesions include congenital cystic adenomatoid malformations (CCAMs), sequestrations and infantile lobar emphysema. Case presented is of right lung CCAM diagnosed at 23 weeks of gestation, followed during antenatal periods for complications, delivered at 39 weeks, planned thoracotomy with lobectomy done on 3rd day of life and followed up till 1 year. Detailed anomaly scan and close monitoring for structural abnormalities of fetus is needed for appropriate management. Relationship of CPAM with early pregnancy severe infections remains to be established.Med Phoenix Vol.2(1) July 2017, 63-66