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Article

Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma

  • Authors:
    • Chinh Quoc Hoang
    • Hong-Quan Duong
    • Nguyen Thanh Nguyen
    • Sy Anh Hao Nguyen
    • Cuong Nguyen
    • Bo Duy Nguyen
    • Lan Tuyet Phung
    • Dung Thuy Nguyen
    • Chau Thi Minh Pham
    • Trang Le Doan
    • Mai Hoang Tran
  • View Affiliations / Copyright

    Affiliations: 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
  • Article Number: 182
    |
    Published online on: July 3, 2021
       https://doi.org/10.3892/mco.2021.2344
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Abstract

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.
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Hoang CQ, Duong H, Nguyen NT, Nguyen SA, Nguyen C, Nguyen BD, Phung LT, Nguyen DT, Pham CT, Le Doan T, Le Doan T, et al: Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. Mol Clin Oncol 15: 182, 2021.
APA
Hoang, C.Q., Duong, H., Nguyen, N.T., Nguyen, S.A., Nguyen, C., Nguyen, B.D. ... Tran, M.H. (2021). Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. Molecular and Clinical Oncology, 15, 182. https://doi.org/10.3892/mco.2021.2344
MLA
Hoang, C. Q., Duong, H., Nguyen, N. T., Nguyen, S. A., Nguyen, C., Nguyen, B. D., Phung, L. T., Nguyen, D. T., Pham, C. T., Le Doan, T., Tran, M. H."Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma". Molecular and Clinical Oncology 15.3 (2021): 182.
Chicago
Hoang, C. Q., Duong, H., Nguyen, N. T., Nguyen, S. A., Nguyen, C., Nguyen, B. D., Phung, L. T., Nguyen, D. T., Pham, C. T., Le Doan, T., Tran, M. H."Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma". Molecular and Clinical Oncology 15, no. 3 (2021): 182. https://doi.org/10.3892/mco.2021.2344
Copy and paste a formatted citation
x
Spandidos Publications style
Hoang CQ, Duong H, Nguyen NT, Nguyen SA, Nguyen C, Nguyen BD, Phung LT, Nguyen DT, Pham CT, Le Doan T, Le Doan T, et al: Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. Mol Clin Oncol 15: 182, 2021.
APA
Hoang, C.Q., Duong, H., Nguyen, N.T., Nguyen, S.A., Nguyen, C., Nguyen, B.D. ... Tran, M.H. (2021). Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma. Molecular and Clinical Oncology, 15, 182. https://doi.org/10.3892/mco.2021.2344
MLA
Hoang, C. Q., Duong, H., Nguyen, N. T., Nguyen, S. A., Nguyen, C., Nguyen, B. D., Phung, L. T., Nguyen, D. T., Pham, C. T., Le Doan, T., Tran, M. H."Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma". Molecular and Clinical Oncology 15.3 (2021): 182.
Chicago
Hoang, C. Q., Duong, H., Nguyen, N. T., Nguyen, S. A., Nguyen, C., Nguyen, B. D., Phung, L. T., Nguyen, D. T., Pham, C. T., Le Doan, T., Tran, M. H."Clinical evaluation of RB1 genetic testing reveals novel mutations in Vietnamese patients with retinoblastoma". Molecular and Clinical Oncology 15, no. 3 (2021): 182. https://doi.org/10.3892/mco.2021.2344
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