Abstract: |
Retinoblastoma is the most common primary intraocular tumor in children. Advances in treatment have led to reductions in rates of enucleation and higher rates of survival. However, due to the contraindication for biopsy in retinoblastoma, alternative non-invasive methods of tissue and genetic analysis must be identified, one of the most promising of which is an analysis of patient blood and serum. Evaluation of peripheral blood in retinoblastoma includes analysis of cell-free DNA for retinoblastoma variants, as well as analysis of germline polymorphisms, circulating proteins, and chromosomal abnormalities, and can be helpful in diagnostic assessment of germline status as well as response to treatment. Blood and serum testing in retinoblastoma is likely to become an important non-invasive diagnostic and prognostic tool in the coming years. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2019, 2024. |