GASTROINTESTINAL STROMAL TUMORS
Abstract: Introduction Pulmonary blastoma (PB) is a rare malignant lung tumour with an immature mesenchymal and epithelial component resembling fetal lung. In order to define potential therapeutic targets in PB, the authors analysed the status and possible role of EGFR, HER2 and c-KIT in the pathogenesis of this tumour type, and the diagnostic value of beta-catenin mutation analysis in PB.
Methods 5 PBs were analysed for EGFR, HER2, c-KIT, and beta-catenin expression, as well as for mutations in EGFR, c-KIT, k-ras and the beta-catenin gene (CTNNB1).
Results EGFR expression was observed in all PBs. An EGFR mutation was found in one of the tumours. No overexpression of c-KIT or HER2 was seen. No mutations were found in k-ras or c-KIT. 3 of 5 PBs displayed CTNNB1 mutations. Nuclear translocation of beta-catenin was seen in 2 of these tumours.
Conclusions Detection of EGFR expression and mutation in PB suggest EGFR inhibition as a potential therapeutic option in the treatment of advanced PB. Moreover, the data confirm a crucial role of CTNNB1 mutations in the pathogenesis of PB, and indicate that CTNNB1 gene sequencing may be a useful in distinguishing PB from other types of lung cancer.
Type of Publication:
Journal article published