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Expression and amplification of therapeutic target genes in retinoblastoma

  • Laboratory Investigation
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Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

We set out to evaluate alterations of the therapeutic target genes KIT (CD 117), EGFR, and HER-2 in human retinoblastoma.

Methods

Ninety-five formalin-fixed, paraffin-embedded retinoblastomas were brought into a tissue microarray (TMA) format. Immunohistochemistry was performed to analyze the expression of CD117, EGFR, and HER-2. Fluorescence in situ hybridization (FISH) was utilized for detection of EGFR amplifications. Three tumors with strong CD117 positivity were sequenced for KIT exon 11 mutations.

Results

Detectable CD117 expression was seen in 19% of all interpretable cases. Sequence analysis of the three tumors with the strongest CD117 expression revealed no mutations. EGFR was positive in 14% of all cases. No EGFR amplification was observed by FISH, however. All tumors were negative for HER-2 expression.

Conclusions

Our data suggest that selected cases of retinoblastoma may be candidates for anti-EGFR and imatinib mesylate (STI571) therapy.

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Authors and Affiliations

  1. Universitäts-Augenklinik Basel, Mittlere Strasse 91, 4056, Basel, Switzerland

    Doris Bösch, Mona Pache, Josef Flammer & Peter Meyer

  2. Institut für Pathologie, Universität Basel, Basel, Switzerland

    Doris Bösch, Ronald Simon, Peter Schraml, Katharina Glatz, Martina Mirlacher, Guido Sauter & Peter Meyer

  3. Universitäts-Augenklinik Freiburg, Freiburg, Germany

    Mona Pache

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  1. Doris Bösch
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Correspondence to Peter Meyer.

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Bösch, D., Pache, M., Simon, R. et al. Expression and amplification of therapeutic target genes in retinoblastoma. Graefe's Arch Clin Exp Ophthalmol 243, 156–162 (2005). https://doi.org/10.1007/s00417-004-1036-2

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  • DOI: https://doi.org/10.1007/s00417-004-1036-2

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