Retinoblastoma, the visible CNS tumor: A review

Abstract

The pediatric ocular cancer retinoblastoma is the only central nervous system (CNS) tumor readily observed without specialized equipment: it can be seen by, and in, the naked eye. This accessibility enables unique imaging modalities. Here, we review this cancer for a neuroscience audience, highlighting these clinical and research imaging options, including fundus imaging, optical coherence tomography, ultrasound, and magnetic resonance imaging. We also discuss the subtype of retinoblastoma driven by the MYCN oncogene more commonly associated with neuroblastoma, and consider trilateral retinoblastoma, in which an intracranial tumor arises along with ocular tumors in patients with germline RB1 gene mutations. Retinoblastoma research and clinical care can offer insights applicable to CNS malignancies, and also benefit from approaches developed elsewhere in the CNS.

A tumor suppressor Retinoblastoma1 is essential for embryonic development in the sea urchin

“…Retinoblastoma (Rb1) is a pocket protein family conserved both in plants and animals . It plays multiple roles, most notably, in cell cycle inhibition by serving as a check point factor as well as in suppression of oncogene expression through its binding to E2F transcription factor .…”

“…cell differentiation, embryonic development, Retinoblastoma1, sea urchin 1 | INTRODUCTION Retinoblastoma (Rb1) is a pocket protein family conserved both in plants and animals. [1][2][3] It plays multiple roles, most notably, in cell cycle inhibition by serving as a check point factor 4 as well as in suppression of oncogene expression through its binding to E2F transcription factor. 5 In many human cancer cells, Rb1 is inactivated through its hyperphosphorylation or mutations, where Rb1 loses its binding to E2F.…”

Human neural progenitor cells decrease photoreceptor degeneration, normalize opsin distribution and support synapse structure in cultured porcine retina

“…Loss of RB1 leads to the benign retinoma; further mutations (M3 to Mn) are required for malignancy. Retinoblastoma can also initiate by amplification of MYCN, with other genomic changes as yet unknown(104). Reproduced with permission from John Wiley and Sons all copyright retained (2018).…”

Optical coherence tomography (OCT) to image active and inactive retinoblastomas as well as retinomas

“…). Another limitation to this optical technique is that it depends on the transparency of the media (Dimaras & Corson ).…”

“…MRI and ultrasonography are used for the management of bigger tumours as a part of standard of care (Dimaras et al 2015). Another limitation to this optical technique is that it depends on the transparency of the media (Dimaras & Corson 2019).…”