PT  - JOURNAL ARTICLE
AU  - Stephan Macher-Goeppinger
AU  - Roland Penzel
AU  - Wilfried Roth
AU  - Hendrik Dienemann
AU  - Michael Thomas
AU  - Philipp Albert Schnabel
AU  - Peter Schirmacher
AU  - Hendrik Bläker
TI  - Expression and mutation analysis of EGFR, c-KIT, and β-catenin in pulmonary blastoma
AID  - 10.1136/jcp.2010.085696
DP  - 2011 Apr 01
TA  - Journal of Clinical Pathology
PG  - 349--353
VI  - 64
IP  - 4
4099  - http://jcp.bmj.com/content/64/4/349.short
4100  - http://jcp.bmj.com/content/64/4/349.full
SO  - J Clin Pathol2011 Apr 01; 64
AB  - 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 β-catenin mutation analysis in PB.Methods 5 PBs were analysed for EGFR, HER2, c-KIT, and β-catenin expression, as well as for mutations in EGFR, c-KIT, k-ras and the β-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 β-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.