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Graefe's Archive for Clinical and Experimental Ophthalmology

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01-02-2005 | Laboratory Investigation

Expression and amplification of therapeutic target genes in retinoblastoma

Authors: Doris Bösch, Mona Pache, Ronald Simon, Peter Schraml, Katharina Glatz, Martina Mirlacher, Josef Flammer, Guido Sauter, Peter Meyer

Published in: Graefe's Archive for Clinical and Experimental Ophthalmology | Issue 2/2005

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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Title: Expression and amplification of therapeutic target genes in retinoblastoma
Authors: Doris Bösch
Mona Pache
Ronald Simon
Peter Schraml
Katharina Glatz
Martina Mirlacher
Josef Flammer
Guido Sauter
Peter Meyer
Publication date: 01-02-2005
Publisher: Springer-Verlag
Published in: Graefe's Archive for Clinical and Experimental Ophthalmology / Issue 2/2005
Print ISSN: 0721-832X
Electronic ISSN: 1435-702X
DOI: https://doi.org/10.1007/s00417-004-1036-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Expression and amplification of therapeutic target genes in retinoblastoma

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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