Expression and Amplification of Therapeutic Target Genes in Retinoblastoma

Overview

Journal Graefes Arch Clin Exp Ophthalmol

Specialty Ophthalmology

Date 2004 Nov 19

PMID 15549365

Citations 8

Authors

Doris Bosch

Mona Pache

Ronald Simon

Peter Schraml

Katharina Glatz

Martina Mirlacher

Josef Flammer

Guido Sauter

Peter Meyer

Affiliations

Soon will be listed here.

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.

Citing Articles

In situ analysis of Her2 DNA and RNA in retinoblastoma and adjacent retina.

Seigel G, Shah D, Mendoza P, Szalai E, Grossniklaus H, Song Y Oncoscience. 2019; 6(7-8):357-366.

PMID: 31608299 PMC: 6768847. DOI: 10.18632/oncoscience.489.

HER2 Overexpression in Retinoblastoma: A Potential Therapeutic Target?.

Sousa D, Zoroquiain P, Orellana M, Dias A, Esposito E, Burnier Jr M Ocul Oncol Pathol. 2017; 3(3):210-215.

PMID: 29230390 PMC: 5649335. DOI: 10.1159/000455871.

A novel treatment approach for retinoblastoma by targeting epithelial growth factor receptor expression with a shRNA lentiviral system.

Chai Y, Xiao J, Du Y, Luo Z, Lei J, Zhang S Iran J Basic Med Sci. 2017; 20(7):739-744.

PMID: 28852437 PMC: 5569589. DOI: 10.22038/IJBMS.2017.9003.

HER2/ERBB2 immunoreactivity in human retinoblastoma.

Seigel G, Sharma S, Hackam A, Shah D Tumour Biol. 2015; 37(5):6135-42.

PMID: 26614428 PMC: 4875886. DOI: 10.1007/s13277-015-4475-y.

Immunohistochemical expression of CD117 and vascular endothelial growth factor in retinoblastoma: possible targets of new therapies.

Youssef N, Said A Int J Clin Exp Pathol. 2014; 7(9):5725-37.

PMID: 25337214 PMC: 4203185.

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