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

• DOI: 10.3892/br.2025.1920
• Publication Date: 2025-01-03T09:33:31Z
• Authors: Mariana Chantre‑j...; Rafaele Silvestre; Thiago De Castro; Eliane Luz; Rafael Pinheiro; Anabela Caruso; Ana Cristina Lopes; Walter Meohas; Gilda Alves; Maria Helena Orne...
• Keywords: Sanger sequencing

Osteosarcoma (OS) is the most common malignant bone tumor affecting adolescents and young adults it usually occurs in long bones of extremities. The detection cancer‑related genetic alterations has a growing effect guiding diagnosis, prognosis targeted therapies. However, little known about molecular aspects involved etiology progression OS, which limits options for present study described case an adolescent patient (16‑years‑old) who was diagnosed with conventional central OS right distal femur without evidence pulmonary metastases; treated surgery adjuvant chemotherapy. Genetic resected tissue were investigated via next‑generation sequencing (NGS) technology using NGS panel. Sanger also performed to investigate somatic germline <em>TP53</em> mutations (exons 4‑8). analysis revealed intratumor heterogeneity signature tumor, including several single nucleotide variants identified genes encoding tyrosine kinase proteins. No PCR products exon 5 detected sample by prior sequencing, suggesting significant deletion this exon. missense variant c.712T&gt;A (p.Cys238Ser) sample, thus reinforcing role development. Additionally, c.215C&gt;G (p.Pro72Arg) peripheral blood sample. In conclusion, findings provided new information on that may contribute development, especially pediatric patients.