Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour.

ABSTRACT: Retinoblastoma is the most common eye malignancy in childhood caused by mutations in the RB1 gene. Both alleles of the RB1 gene must be mutated for tumour development. The initial RB1 mutation may be constitutional germline or somatic (originating in one retinal cell only). Distinguishing between these alternative mechanisms is crucial, with wider implications for management of the patient and family members. Bilateral retinoblastoma is nearly always due to a constitutional mutation; however, approximately 15% of unilateral cases also carry a germline mutation, and identifying these cases is important. This can be achieved by identifying both mutation types in tumour tissue and excluding their presence in blood. Modern eye-saving chemotherapy treatment (systemic, intra-arterial and intravi

SUBMITTER: Gerrish A 

PROVIDER: S-EPMC6709774 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature