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Updated: Jul 26, 2025

Reconstruct Human Retinoblastoma In Vitro
Published on: October 11, 2022
A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma
Hiroko Fukushima1, Ryoko Suzuki1, Takahiro Hiraoka2
1Department of Child Health, Institution of Medicine, University of Tsukuba, Ibaraki, Japan.
Abstract:
Retinoblastoma manifests as ocular malignancy due to mutations in the RB1 gene. A 17-month-old girl with bilateral retinoblastoma having no family history was admitted to our hospital. The right eye was enucleated but the other was preserved with systemic chemotherapy and topical treatment. The patient has been tumor-free for over 7 years since diagnosis. All exons of RB1 were sequenced and a novel 1-base pair deletion (NM_000321.2:c.2409del, p.Asn803Lysfs*7) was detected.
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