Identifying all genetic culprits may improve diagnostics and prognoses. Retinoblastoma is a rare, aggressive genetic childhood cancer that results from a mutation that inactivates the RB1 gene, ie, the master gene of the disease, in the vast majority of cases. Despite the fact that early research into retinoblastoma began more than 5 decades ago, the genetic information about the disease is far from complete.
According to the authors of a current review 1 of the genetics of retinoblastoma, the disease has a large spectrum of pathogenic variants, about 2, discovered thus far, with in excess of different somatic or germline mutations resulting in RB1 gene inactivation.
He pointed out that remarkable advances in retinoblastoma therapy have been realised over the past decades, including intra-arterial and intraocular chemotherapy and proton-beam radiation therapy; however, these treatment options are not readily available to underdeveloped countries. Retinoblastoma is rare in that the incidence rate is 1 of 15, to 20, live births, or about 8, cases annually worldwide, but it is the most common primary intraocular tumour in children and infants.
Depending on the type of mutation, the penetrance of RB is different. Additionally, epigenetic changes contribute to the progression of retinoblastoma. As mentioned previously, the treatments available to patients are governed by location. In addition, the screening programs for early disease detection in underdeveloped countries are also rudimentary and not uniform.
With early detection and treatment, less radical forms of therapy can cure retinoblastoma 10 ; with late-stage diagnosis, the chances of saving the ocular globe decrease. Many countries now screen newborns for retinoblastoma. The accuracy of genetic testing is high when DNA can be isolated from tumour DNA after enucleation, which obviously is not the preferred end point.
