Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants
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?zge Vural. Gazi University Faculty of Medicine, Emniyet Mahallesi, Mevlana Bulvar?, No.29, Yenimahalle/Ankara 06500, Türkiye. drozgevural@yahoo.com

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    Abstract:

    AIM: To assess the clinical and genetic characteristics of children diagnosed with retinoblastoma (RB) at Gazi University Faculty of Medicine’s Department of Pediatric Oncology. METHODS: 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 retrospectively. The RB1 gene was analyzed by next-generation sequencing (NGS) technique in DNAs obtained from peripheral blood samples of the patients. RESULTS: This study included 53 cases with 67 RB-affected eyes during the study period. The mean age was 24.6 (median: 18.5, range: 3–151)mo. There were 15 (22.3%) Group D eyes and 39 (58.2%) Group E eyes. The RB1 gene was sequenced by the NGS method in 19 patients. Heterozygous RB1:NM_000321.3: c.54_76del (p.Glu19AlafsTer4) variant was detected in a 15-month-old female with bilateral RB. Heterozygous RB1:NM_000321.3: c.1814+3A>T variant was detected in a 5.5-month-old male with bilateral RB. The intronic RB1:NM_000321.3: c.1332+4A>G variant was detected in patient 14, a 13-month-old male with unilateral RB. The RB1:NM_000321.3: c.575_576del (p.Lys192SerfsTer10) 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 databases. CONCLUSION: Four novel variants are described and one of them is found in two different patients. This data is crucial for assessing prognosis. It 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.

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Özge Vural, Hatice Tuba Atalay, Gulsum Kayhan, et al. Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants. Int J Ophthalmol, 2023,16(8):1274-1279

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Publication History
  • Received:March 23,2023
  • Revised:June 26,2023
  • Adopted:
  • Online: July 25,2023
  • Published: