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New research · Ophthalmology
Mutation research. Genetic toxicology and environmental mutagenesis · 16h
ReviewMutation research. Genetic toxicology and environmental mutagenesis · 2025

The potential implications of dysregulated DNA damage repair genes and their modulators as adjuvants for current chemotherapy regimens in Retinoblastoma tumors.

Keya Katare, Rohit Shetty, Arkasubhra Ghosh
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OphthalmologyReview

Retinoblastoma survival gap: 3-5% mortality in developed nations vs 40-70% in developing nations.

The potential implications of dysregulated DNA damage repair genes and their modulators as adjuvants for current chemotherapy regimens in Retinoblastoma tumors.

Keya Katare … Arkasubhra Ghosh
Mutation research. Genetic toxicology and environmental mutagenesis · 2025
Background

Retinoblastoma (retinoblastoma) is the most common pediatric ocular malignancy resulting from biallelic inactivation of the RB1 gene and can be fatal if not treated.

40-70%
Results
40-70%
Death rate from retinoblastoma is far higher in developing countries than in developed ones.
More results

With advances in chemotherapy and earlier diagnosis, the mortality rates in developed nations such as USA, Europe and Canada, have reduced to 3-5 %.

Since chemotherapy is still a mainstay of retinoblastoma treatment, bystander toxicity remains an important concern.

More results

Loss of the RB1 gene causes not only unrestricted cell cycle progression and cell division, driven by the E2F transcription factor family, but also leads to the accumulation of various other mutations and chromosomal aberrations, which may have a specific impact on the patients' response to chemotherapy.

“
Conclusion

Crystallizing the available information, we also propose the use of a few DNA damage repair inhibitors of the identified deregulated genes in retinoblastoma that are currently in clinical trials for other cancer types, as adjunct therapy to increase chemosensitivity of retinoblastoma tumors and reduce chemotherapy-induced toxicity for better treatment outcomes.

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