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Case Report Open Access

Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature

  • Authors:
    • Mariana Chantre‑Justino
    • Rafaele Tavares Silvestre
    • Thiago Luz De Castro
    • Eliane Luz
    • Rafael De Castro E Silva Pinheiro
    • Anabela Caruso
    • Ana Cristina De Sá Lopes
    • Walter Meohas
    • Gilda Alves
    • Maria Helena Faria Ornellas
  • View Affiliations / Copyright

    Affiliations: Research Division, National Institute of Traumatology and Orthopedics, Rio de Janeiro 20940‑070, Brazil, Circulating Biomarkers Laboratory, Pathology Department, Faculty of Medical Sciences, Rio de Janeiro State University, Rio de Janeiro 20550‑170, Brazil, Specialized Care Center for Orthopedic Oncology, National Institute of Traumatology and Orthopedics, Rio de Janeiro 20940‑070, Brazil
    Copyright: © Chantre‑Justino et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 42
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    Published online on: January 3, 2025
       https://doi.org/10.3892/br.2025.1920
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Abstract

Osteosarcoma (OS) is the most common malignant bone tumor affecting adolescents and young adults and it usually occurs in the long bones of the extremities. The detection of cancer‑related genetic alterations has a growing effect in guiding diagnosis, prognosis and targeted therapies. However, little is known about the molecular aspects involved in the etiology and progression of OS, which limits options for targeted therapies. The present study described a case of an adolescent patient (16‑years‑old) who was diagnosed with conventional central OS in the right distal femur without the evidence of pulmonary metastases; the patient was treated with surgery and adjuvant chemotherapy. Genetic alterations in resected tumor tissue were investigated via next‑generation sequencing (NGS) technology using a targeted NGS panel. Sanger sequencing was also performed to investigate somatic and germline TP53 mutations (exons 4‑8). NGS analysis revealed an intratumor heterogeneity signature in OS tumor, including several single nucleotide variants identified in genes encoding tyrosine kinase proteins. No PCR products for TP53 exon 5 were detected in the tumor sample by PCR analysis prior to Sanger sequencing, suggesting a significant deletion in this exon. Sanger sequencing analysis revealed the missense variant TP53 c.712T>A (p.Cys238Ser) in tumor tissue sample, thus reinforcing the role of TP53 somatic mutations in OS development. Additionally, the TP53 c.215C>G (p.Pro72Arg) germline missense variant was identified in the peripheral blood sample. In conclusion, the findings provided new information on genetic aspects that may contribute to OS development, especially in pediatric patients.
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Copy and paste a formatted citation
Spandidos Publications style
Chantre‑Justino M, Silvestre RT, De Castro TL, Luz E, Pinheiro RD, Caruso A, Lopes AD, Meohas W, Alves G, Ornellas MF, Ornellas MF, et al: Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature. Biomed Rep 22: 42, 2025.
APA
Chantre‑Justino, M., Silvestre, R.T., De Castro, T.L., Luz, E., Pinheiro, R.D., Caruso, A. ... Ornellas, M.F. (2025). Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature. Biomedical Reports, 22, 42. https://doi.org/10.3892/br.2025.1920
MLA
Chantre‑Justino, M., Silvestre, R. T., De Castro, T. L., Luz, E., Pinheiro, R. D., Caruso, A., Lopes, A. D., Meohas, W., Alves, G., Ornellas, M. F."Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature". Biomedical Reports 22.3 (2025): 42.
Chicago
Chantre‑Justino, M., Silvestre, R. T., De Castro, T. L., Luz, E., Pinheiro, R. D., Caruso, A., Lopes, A. D., Meohas, W., Alves, G., Ornellas, M. F."Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature". Biomedical Reports 22, no. 3 (2025): 42. https://doi.org/10.3892/br.2025.1920
Copy and paste a formatted citation
x
Spandidos Publications style
Chantre‑Justino M, Silvestre RT, De Castro TL, Luz E, Pinheiro RD, Caruso A, Lopes AD, Meohas W, Alves G, Ornellas MF, Ornellas MF, et al: Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature. Biomed Rep 22: 42, 2025.
APA
Chantre‑Justino, M., Silvestre, R.T., De Castro, T.L., Luz, E., Pinheiro, R.D., Caruso, A. ... Ornellas, M.F. (2025). Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature. Biomedical Reports, 22, 42. https://doi.org/10.3892/br.2025.1920
MLA
Chantre‑Justino, M., Silvestre, R. T., De Castro, T. L., Luz, E., Pinheiro, R. D., Caruso, A., Lopes, A. D., Meohas, W., Alves, G., Ornellas, M. F."Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature". Biomedical Reports 22.3 (2025): 42.
Chicago
Chantre‑Justino, M., Silvestre, R. T., De Castro, T. L., Luz, E., Pinheiro, R. D., Caruso, A., Lopes, A. D., Meohas, W., Alves, G., Ornellas, M. F."Genetic profiling of osteosarcoma in an adolescent using a next‑generation sequencing panel and Sanger sequencing: A case report and review of the literature". Biomedical Reports 22, no. 3 (2025): 42. https://doi.org/10.3892/br.2025.1920
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