Retinoblastoma: present scenario and future challenges

Abstract

With an average incidence of 1 in every 18,000 live births, retinoblastoma is a rare type of intraocular tumour found to affect patients during their early childhood. It is curable if diagnosed at earlier stages but can become life-threateningly malignant if not treated timely. With no racial or gender predisposition, or even environmental factors known to have been involved in the incidence of the disease, retinoblastoma is often considered a clinical success story in pediatric oncology. The survival rate in highly developed countries is higher than 95% and they have achieved this because of the advancement in the development of diagnostics and treatment techniques. This includes developing the already existing techniques like chemotherapy and embarking on new strategies like enucleation, thermotherapy, cryotherapy, etc. Early diagnosis, studies on the etiopathogenesis and genetics of the disease are the need of the hour for improving the survival rates. According to the Knudson hypothesis, also known as the two hit hypothesis, two hits on the retinoblastoma susceptibility (RB) gene is often considered as the initiating event in the development of the disease. Studies on the molecular basis of the disease have also led to deciphering the downstream events and thus in the discovery of biomarkers and related targeted therapies. Furthermore, improvements in molecular biology techniques enhanced the development of efficient methods for early diagnosis, genetic counseling, and prevention of the disease. In this review, we discuss the genetic and molecular features of retinoblastoma with a special emphasis on the mutation leading to the dysregulation of key signaling pathways involved in cell proliferation, DNA repair, and cellular plasticity. Also, we describe the classification, clinical and epidemiological relevance of the disease, with an emphasis on both the traditional and innovative treatments to tackle retinoblastoma.

Genetic Risk Factors and Clinical Outcomes in Childhood Eye Cancers: A Review

“…The most frequent symptom of RB is leukocoria, which represents a white glow or white reflection of the pupil ( Figure 1 a). Other signs include strabismus, vision impairment, hypopyon, retinal detachment, secondary glaucoma, and ocular pain in the advanced stages [ 11 , 12 ]. RB can present as either a bilateral or a unilateral tumor.…”

GIPR Overexpression Reduces the Tumorigenic Potential of Retinoblastoma Cells

“…With approximately 1 in every 18,000 live births worldwide, retinoblastoma (RB) is a rare tumor, yet the most common intraocular pediatric malignancy found in younger children under five years of age [1][2][3]. In bilateral RBs, which make up approx.…”

“…via intraarterial chemotherapy (IAC) or intravitreal chemotherapy (IVC). IVC focusses on precise drug delivery to the hotspot of tumor seeding, the vitreous body, reducing the toxicity of systemic chemotherapy [1,[11][12][13][14][15]. However, current therapies are associated with a considerable, sometimes even complete loss of vision and a significantly increased risk for secondary tumors [16] as well as the development of chemotherapy resistance [17].…”

Gastric Inhibitory Polypeptide Receptor (GIPR) Overexpression Reduces the Tumorigenic Potential of Retinoblastoma Cells

“…Affecting approximately 1 in every 18,000 live births worldwide, retinoblastoma (RB) is a rare tumor, yet it is the most common intraocular pediatric malignancy found in children under five years of age [1][2][3]. In bilateral RBs, which make up approx.…”

“…40% of all cases, the tumor effects both eyes [4]. The RB1 gene regulates the cell cycle and inhibits tumorigenesis, and RB develops after a loss or mutation of both gene copies [1,2,[4][5][6]. If diagnosed early, RB is curable, but, if left untreated, it leads to severe visual impairment and can even become life-threatening due to metastatic spread [1,[7][8][9][10][11].…”