Matches in SemOpenAlex for { <https://semopenalex.org/work/W4211146114> ?p ?o ?g. }
- W4211146114 abstract "Retinoblastoma is a rare cancer of the infant retina that is diagnosed in approximately 8,000 children each year worldwide. It forms when both retinoblastoma gene (RB1) alleles are mutated in a susceptible retinal cell, probably a cone photoreceptor precursor. Loss of the tumour-suppressive functions of the retinoblastoma protein (pRB) leads to uncontrolled cell division and recurrent genomic changes during tumour progression. Although pRB is expressed in almost all tissues, cone precursors have biochemical and molecular features that may sensitize them to RB1 loss and enable tumorigenesis. Patient survival is >95% in high-income countries but <30% globally. However, outcomes are improving owing to increased disease awareness for earlier diagnosis, application of new guidelines and sharing of expertise. Intra-arterial and intravitreal chemotherapy have emerged as promising methods to salvage eyes that with conventional treatment might have been lost. Ongoing international collaborations will replace the multiple different classifications of eye involvement with standardized definitions to consistently assess the eligibility, efficacy and safety of treatment options. Life-long follow-up is warranted, as survivors of heritable retinoblastoma are at risk for developing second cancers. Defining the molecular consequences of RB1 loss in diverse tissues may open new avenues for treatment and prevention of retinoblastoma, as well as second cancers, in patients with germline RB1 mutations. Retinoblastoma is a rare tumour of the eye that affects infants and children and is associated with the loss of both retinoblastoma gene (RB1) alleles. In this Primer, Gallie and colleagues describe the pathophysiology and management of this disease from a global perspective and discuss the remaining challenges to its treatment." @default.
- W4211146114 created "2022-02-13" @default.
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- W4211146114 date "2015-08-27" @default.
- W4211146114 modified "2023-10-15" @default.
- W4211146114 title "Retinoblastoma" @default.
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