Retinoblastoma: from discovery to clinical management

Abstract

Abbreviations: Retinoblastoma protein/gene (RB/RB1); External Beam Radiotherapy (EBRT); intravenous chemotherapy (IVC); vincristine, etoposide and carboplatin (VEC); intra-arterial chemotherapy (IAC); intraocular classification of retinoblastoma (ICRB); Proton beam radiation therapy (PBRT); the transforming growth factor b1 (TGF-b1); senescence-associated heterochromatic foci (SAHF); lactate dehydrogenase (LDH); no-homologous end joining (NHEJ); homologous recombination (HR); methyltransferase 1 (DNMT1); DNA-dependent protein kinase (DNA-K); histone deacetylase 1 (HDAC1); DNA-dependent protein kinase (DNA-K); Sex-determining Y box 2 (SOX2); Ras association domain family (RASSF); Cellular Retinoic Acid Binding Protein (CRABP); apolipoprotein A-I (APOA1); Colon Cancer Associated Transcript 1 (CCAT1); glial fibrillary acidic protein (GFAP); Retinol Binding Protein 3 (RBP3); lamin B1 protein(LMNB1); Transferrin Receptor (TFRC).

Genetics in ophthalmology: molecular blueprints of retinoblastoma

“…Human RB protein (pRB) has a mass of 106 kDa (106,159 Da) and consists of 928 amino acids. It has been demonstrated that this protein functions in a wide network of molecular interactions [ 3 , 18 ]. The function and the structure of this protein has been extensively studied for decades; however, its many molecular functions still need investigation.…”

“…pRB protein versatile functions are illustrated by many different protein interactions it performs. Besides E2F family members, pRB interacts with chromatin modifiers such as DNMT1, HDAC, SIRT1, the replication factor C, the DNA polymerase α, MDMX and MDM2 [ 3 ]. For example, it has been shown that MDM2 is an important regulator of the RB activity with dual roles, when in G1 phase it can bind to the RB mRNA and enhance the RB translation, while during G2 MDM2 can degrade pRB.…”

“…Knudson’s two hit model proposed that one RB1 allele is lost or mutated in all cells and a second somatic mutagenic event affects the remaining allele in a primitive retinal cell, thus initiating tumorigenesis. More than 10 years after Knudson’s discovery, RB1 gene was the first tumor suppressor gene to be identified and cloned [ 3 – 6 ].…”

The clinical diagnostic value of plasma miR-592 and miR-217-3p levels in retinoblastoma

“…In children, retinoblastoma (Rb) is a relatively common human genetic malignant ocular tumour (1)(2)(3)(4). It has the characteristics of high incidence, and low survival rate usually occurs in children under 3 years old and can affect one or both two eyes and seriously affect the health of children (5)(6)(7). Rb can be divided into two genetic modes: germline inheritance and non-germline inheritance (8).…”

Centromere protein E as a novel biomarker and potential therapeutic target for retinoblastoma

“…Research into novel biomarkers is an effective way to improve the probability of satisfactory outcomes, including the prognosis and quality of life in patients with retinoblastoma. Although new molecular biomarkers for retinoblastoma have been revealed in recent years [7][8][9][10][11], they are still in the experimental stage and have not been approved for clinical use [12]. Currently, there is no gold standard biomarker for the diagnosis and treatment of retinoblastoma.…”