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Expression and mutation analysis of EGFR, c-KIT, and β-catenin in pulmonary blastoma
  1. Stephan Macher-Goeppinger1,
  2. Roland Penzel1,
  3. Wilfried Roth1,
  4. Hendrik Dienemann2,
  5. Michael Thomas3,
  6. Philipp Albert Schnabel1,
  7. Peter Schirmacher1,
  8. Hendrik Bläker1
  1. 1Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany
  2. 2Department of Thoracic Surgery, Thoraxklinik, University of Heidelberg, Germany
  3. 3Department of Thoracic Oncology, Thoraxklinik, University of Heidelberg, Germany
  1. Correspondence to Hendrik Bläker, Institute of Pathology, University Hospital Heidelberg, Im Neuenheimer Feld 220, Heidelberg 69120, Germany; hendrik.blaeker{at}med.uni-heidelberg.de

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 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.

  • β-Catenin mutation
  • diagnostics
  • EGFR
  • EGFR mutation
  • pulmonary blastoma
  • pulmonary pathology

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Footnotes

  • Funding This work was supported by a postdoctoral fellowship from the University of Heidelberg to SM-G.

  • Competing interests None.

  • Ethics approval The study was approved by local ethics committee (application no. 205).

  • Provenance and peer review Not commissioned; externally peer reviewed.

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