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Article

A novel de-novo RB1 mutation identified in a patient with bilateral retinoblastoma.

Japanese journal of clinical oncology - 30 Aug 2023

Fukushima Hiroko, Suzuki Ryoko, Hiraoka Takahiro, Suzuki Shigenobu, Noguchi Emiko, Takada Hidetoshi

Abstract excerpt

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...

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PMID: 37345682
DOI: 10.1093/jjco/hyad064

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