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

Gail M Seige1, Dhaval K Shah2, Pia Mendoza3, Ezster Szalai3, Hans Grossniklaus3, Yinghui Song4, Jidong Shan4

1 University at Buffalo, Center for Hearing and Deafness, Buffalo, NY

2 University at Buffalo, Department of Pharmaceutical Sciences, Buffalo, NY

3 Emory Eye Center, Emory University, Atlanta, GA

4 Molecular Cytogenetic Core, Albert Einstein College of Medicine, NY

Correspondence to:

Gail M. Seigel, email:gseigel@buffalo.edu

Keywords: Retinoblastoma; Her2; Adjacent tissues

Received: April 04, 2019 Accepted: May 15, 2019 Published: August 23, 2019


Retinoblastoma (RB) is an ocular tumor of early childhood. Current treatments attempt to preserve visual function, but may spare chemoresistant tumor cells. One potential therapeutic target for RB is HER2, (ERBB2), expressed in RB in truncated form. In this study, we tested the hypothesis that Her2 DNA and RNA are expressed in RB tumors and adjacent retina. We examined 24 human RB tumors as well as normal-appearing adjacent retinal tissues for Her2 DNA and RNA expression by in situ hybridization. We also examined 28 RB tumors for HER2 protein immunoreactivity. 21/22 RB tumors expressed Her2 DNA and 14/19 tumors expressed Her2 RNA. In 17 paired cases, there were three cases in which Her2 DNA was detected, but not RNA. We also saw Her2 RNA signal in six instances of “normal” adjacent retinal tissue. Heterogeneous HER2 protein expression in specific tumor regions also was confirmed by quantitative HER2 immunohistochemistry. In summary, Her2 DNA and RNA are expressed in many RB tumors, and in some adjacent ocular tissues, with hetereogenous protein expression throughout. These results may provide important insights regarding RB tumor progression, and drug targeting approaches designed to spare the eye, preserve vision and improve quality of life for RB patients.

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