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Molecular Alterations in Osteosarcomas of the Oral and Maxillofacial Region: A Scoping Review
Iara Vieira Ferreira1,2, Reydson Alcides de Lima-Souza1,2, Moisés Willian Aparecido Gonçalves1,2
1Oral Diagnosis Department, Piracicaba Dental School, State University of Campinas (UNICAMP), Piracicaba, São Paulo, Brazil.
Background:
Given the rarity and aggressive nature of osteosarcomas (OS) in the oral and maxillofacial region, understanding their molecular alterations is essential to improve diagnosis, prognosis, and guide targeted therapies. This study aimed to map molecular alterations associated with oral and maxillofacial OS, providing an overview of the genetic mechanisms involved in their development and progression.
Methods:
A scoping review was performed following the PRISMA-ScR guidelines. Studies included observational research, case reports, and systematic reviews focusing on molecular alterations in oral and maxillofacial OS. A comprehensive search was conducted across four databases, and findings were synthesized and categorized by molecular characteristics.
Results:
A total of 20 studies involving 68 maxillofacial OS cases were included. The average patient age was 39.4 years, with a slight male predominance. The mandible was the most commonly affected site, and chondroblastic OS was the most frequent histological subtype. Genetic alterations were predominantly observed in the TP53 gene, along with alterations in MDM2, CDK4, and other genes. Treatment primarily involved surgery, with or without chemotherapy. Local recurrence occurred in 11.1% of cases, and distant metastases in 16%. At the final follow-up, 69.7% of patients were alive.
Conclusion:
This study emphasizes the value of molecular techniques in improving the diagnosis and management of maxillofacial OS. However, further research is needed to fully understand the molecular complexity and optimize therapeutic strategies.
Insights
Understanding molecular alterations in oral and maxillofacial osteosarcomas (OS) is crucial. This review highlights TP53 gene alterations as common in OS, guiding improved diagnosis and targeted therapies.
Area of Science:
- Oncology
- Genetics
- Oral and Maxillofacial Surgery
Background:
- Oral and maxillofacial osteosarcomas (OS) are rare and aggressive.
- Understanding their molecular landscape is key for improved diagnosis, prognosis, and targeted treatments.
Purpose of the Study:
- To map molecular alterations in oral and maxillofacial OS.
- To provide an overview of genetic mechanisms in OS development and progression.
Main Methods:
- A scoping review adhering to PRISMA-ScR guidelines.
- Inclusion of observational studies, case reports, and systematic reviews on maxillofacial OS molecular alterations.
- Comprehensive database search and synthesis of findings by molecular characteristics.
Main Results:
- 20 studies with 68 maxillofacial OS cases analyzed; average age 39.4 years, male predominance.
- Mandible most affected site; chondroblastic OS most frequent subtype.
- Predominant TP53 gene alterations, alongside MDM2, CDK4, and others. Surgery +/- chemotherapy used; 11.1% local recurrence, 16% distant metastasis.
Conclusions:
- Molecular techniques are valuable for diagnosing and managing maxillofacial OS.
- Further research is essential to elucidate molecular complexity and optimize therapeutic strategies.
