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Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants

International Journal of Ophthalmology(English edition) 2023年第8期16卷 1274-1279页

作者： Özge Vural hatice tuba atalay Gulsum Kayhan Bercin Tarlan Merve Oral Arzu Okur Faruk GüçlüPınarlı Ceyda Karadeniz Department of Pediatric Hematology and Oncology Gazi University Faculty of MedicineAnkara 06500Türkiye Department of Ophthalmology Gazi University Faculty of MedicineAnkara 06500Türkiye Department of Medical Genetics Gazi University Faculty of MedicineAnkara 06500Türkiye

AIM:To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma(RB)at Gazi University Faculty of Medicine’s Department of Pediatric ***:All cases diagnosed with RB and received treatment and follow-up in the Ophthalmology and Pediatric Oncology Department,October 2016 to May 2021 were evaluated *** RB1 gene was analyzed by next-generation sequencing(NGS)technique in DNAs obtained from peripheral blood samples of the ***:This study included 53 cases with 67 RBaffected eyes during the study *** mean age was 24.6(median:18.5,range:3–151)*** were 15(22.3%)Group D eyes and 39(58.2%)Group E *** RB1 gene was sequenced by the NGS method in 19 *** RB1:NM_000321.3:c.54_76del(***19AlafsTer4)variant was detected in a 15-month-old female with bilateral *** RB1:NM_000321.3:c.1814+3A>T variant was detected in a 5.5-month-old male with bilateral *** intronic RB1:NM_000321.3:c.1332+4A>G variant was detected in patient 14,a 13-month-old male with unilateral *** RB1:NM_000321.3:c.575_576del(***192SerfsTer10)variant was found in an 18-month-old female with an allele frequency of 37%.These variants have not been reported in the literature and mutation ***:Four novel variants are described and one of them is found in two different *** data is crucial for assessing *** serves as a guide for estimating the long-term risk of secondary malignancy as well as the short-term risk of developing additional malignancies in the same eye and the other eye.

关键词： retinoblastoma RB1 novel mutations next generation sequencing

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