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Expression of epidermal growth factor receptor, but not K-RAS mutations, is present in congenital cystic airway malformation/congenital pulmonary airway malformation.

Abstract：

:Congenital cystic airway malformation/congenital pulmonary airway malformation (CCAM/CPAM) of the lung is a rare but well-described malformative lesion of pulmonary parenchyma characterized by the abnormal maturation of airways along with an increase in terminal respiratory structures, resulting in cysts of variable sizes. Five types have been classified based on morphological analysis. Although the etiology of the lesion is still unclear, recent data suggest that bronchial atresia is a predisposing/associated anomaly. A described association between type 1 CCAM/CPAM and bronchioloalveolar carcinoma suggests that type 1 CCAM/CPAM may predispose to malignant transformation by as yet unidentified tumorigenic mechanisms. Here we studied epidermal growth factor receptor (EGFR) and K-RAS oncogene, 2 biological markers closely associated with tumorigenesis and altered in many types of tumors, including lung carcinomas. For this purpose, we used immunohistochemistry and gene sequencing in paraffin-embedded tissue. Our results demonstrate expression of EGFR in types 1 and 3 CCAM/CPAM, with a distinctive distribution and intensity, compared with that of type 2. Of special interest, mucinous areas in 2 cases of type 1 CCAM/CPAM lacked EGFR expression, whereas adjacent epithelial cystic linings were strongly positive. This supports the hypothesis that mucinous differentiation in CCAM/CPAM, always present in cases with malignant transformation, could be related to other molecular pathways. The K-RAS gene was screened for mutations usually found in lung carcinomas; however, no mutations were present in any of the studied samples. These findings support the notion that EGFR may play an important role in the pathogenesis and phenotype of CCAM/CPAM.

journal_name

Hum Pathol

journal_title

Human pathology

authors

Guo H,Cajaiba MM,Borys D,Gutierrez MC,Yee H,Drut RM,Drut R,Askin F,Reyes-Múgica M,Greco MA

doi

10.1016/j.humpath.2007.04.009

subject

Has Abstract

pub_date

2007-12-01 00:00:00

pages

1772-8

issue

eissn

0046-8177

issn

1532-8392

pii

S0046-8177(07)00196-7

journal_volume

pub_type

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Expression of epidermal growth factor receptor, but not K-RAS mutations, is present in congenital cystic airway malformation/congenital pulmonary airway malformation.