TY - JOUR AB - Clinical evaluation of the genetic testing strategy is essential for ensuring the correct determination of mutation carriers. The current study retrospectively analyzed genetic and clinicopathological data from 62 Vietnamese patients with retinoblastoma (RB) referred to the Vinmec Hi‑Tech Center for RB transcriptional corepressor 1 (RB1) genetic testing between 2017 and 2019. The present study aimed to evaluate the sensitivity of the Next Generation Sequencing (NGS) method to identify novel RB1 mutations, and to consider using age at diagnosis as a risk factor. Genomic DNA was analyzed with custom panel based targeted NGS. NGS was performed on the Beijing Genomics Institute (BGI) sequencing platform, and pathogenic or likely pathogenic variants were confirmed by Sanger sequencing, quantitative PCR (qPCR) or Multiplex Ligation‑dependent Probe Amplification assay (MLPA). Constitutional RB1 variants were identified in 100% (25/25) of the bilateral cases, while several common previously reported RB1 mutations were also recorded. In addition, in Vietnamese patients with RB, nine novel RB1 mutations were identified. Children aged between 0‑36 months were more likely to be RB1 carriers compared with those aged >36 months. The current findings indicated that the NGS method implemented in the Vinmec Hi‑Tech Center was highly accurate, and age at diagnosis may be used to assess the risk of hereditary RB. Furthermore, the newly identified RB1 mutations may provide additional data to improve the current understanding of the mechanisms underlying RB1 inactivation and the development of rapid assays for detecting RB1 mutations. Overall, the present study suggested that NGS may be applied for detecting germline RB1 mutations in routine clinical practice. AD - Vinmec Hi‑Tech Center, Vinmec Healthcare System, Hanoi 100000, Vietnam Department of Cancer Research, Vinmec Research Institute of Stem Cell and Gene Technology, Hanoi 100000, Vietnam Department of Translational Biomedical Informatics, Vingroup Big Data Institute, Hanoi 100000, Vietnam Institute for Preventive Medicine and Public Health, Hanoi Medical University, Hanoi 100000, Vietnam Department of Pediatrics 3, Vinmec International Hospital in Times City, Vinmec Healthcare System, Hanoi 100000, Vietnam Department of Pediatric Ophthalmology, Vietnam National Eye Hospital, Hanoi 100000, Vietnam AU - Hoang,Chinh,Quoc AU - Duong,Hong-Quan AU - Nguyen,Nguyen,Thanh AU - Nguyen,Sy,Anh Hao AU - Nguyen,Cuong AU - Nguyen,Bo,Duy AU - Phung,Lan,Tuyet AU - Nguyen,Dung,Thuy AU - Pham,Chau,Thi Minh AU - Le Doan,Trang AU - Tran,Mai,Hoang DA - 2021/09/01 DO - 10.3892/mco.2021.2344 IS - 3 JO - Mol Clin Oncol KW - retinoblastoma RB transcriptional corepressor 1 next generation sequencing sensitivity novel mutations risk‑stratified factors PY - 2021 SN - 2049-9450 2049-9469 SP - 182 ST - Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma T2 - Molecular and Clinical Oncology TI - Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma UR - https://doi.org/10.3892/mco.2021.2344 VL - 15 ER -