Prognostic Factors for Pediatric Osteosarcoma
Laboratory Genetics and Genomics
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Primary Categories:
- Clinical- Pediatric
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Secondary Categories:
- Clinical- Pediatric
Introduction:
Pediatric osteosarcoma is the most common primary malignant bone tumor in children and adolescents, yet effective prognostic markers remain inadequately studied. This study aims to review and summarize a clinically and genetically characterized cohort of osteosarcoma patients for use in future research aimed at identifying prognostic markers for osteosarcomas.
Methods:
This retrospective study analyzed data from 54 pediatric osteosarcoma patients at the Children’s Hospital of Philadelphia (CHOP). Tumors were sequenced with the CHOP Comprehensive Solid Tumor NGS Panel interrogating 238 cancer genes for SNVs, indels, and copy number alterations and 117 cancer genes for gene fusions at the Division of Genomic Diagnostics. The clinical and outcome data was extracted from the EPIC healthcare system.
Results:
The cohort had a mean age at diagnosis of 13 years, 61.1% of patients were Caucasian and 50% females. The most common primary tumor site was the distal femur (42.6%) followed by proximal humorous (22.2%). Notably, 44.4% presented with metastatic disease, predominantly to the lungs (87.5%). All tumors demonstrated complex genome-wide copy number alterations. Germline predisposition was identified in 11.1% of patients, including pathogenic variants in TP53 (5.56%), RECQL4 (1.85%), NF1 (1.85%), and RB1 (1.85%). Treatment included MAP therapy (94.4%) and surgical resection with negative margins (96.3%). The median follow-us is 3.6 years. The 2 year event free survival and overall survival were 45.5% and 85%, which decreased to 40.7% and 76% after 3 years. The study is ongoing in an additional 39 patients.
Conclusion:
We have established a cohort of clinically and genomically characterized osteosarcomas. There is an urgent need for improved prognostic markers and personalized treatment strategies in pediatric osteosarcoma to enhance therapeutic approaches and patient survival.
Pediatric osteosarcoma is the most common primary malignant bone tumor in children and adolescents, yet effective prognostic markers remain inadequately studied. This study aims to review and summarize a clinically and genetically characterized cohort of osteosarcoma patients for use in future research aimed at identifying prognostic markers for osteosarcomas.
Methods:
This retrospective study analyzed data from 54 pediatric osteosarcoma patients at the Children’s Hospital of Philadelphia (CHOP). Tumors were sequenced with the CHOP Comprehensive Solid Tumor NGS Panel interrogating 238 cancer genes for SNVs, indels, and copy number alterations and 117 cancer genes for gene fusions at the Division of Genomic Diagnostics. The clinical and outcome data was extracted from the EPIC healthcare system.
Results:
The cohort had a mean age at diagnosis of 13 years, 61.1% of patients were Caucasian and 50% females. The most common primary tumor site was the distal femur (42.6%) followed by proximal humorous (22.2%). Notably, 44.4% presented with metastatic disease, predominantly to the lungs (87.5%). All tumors demonstrated complex genome-wide copy number alterations. Germline predisposition was identified in 11.1% of patients, including pathogenic variants in TP53 (5.56%), RECQL4 (1.85%), NF1 (1.85%), and RB1 (1.85%). Treatment included MAP therapy (94.4%) and surgical resection with negative margins (96.3%). The median follow-us is 3.6 years. The 2 year event free survival and overall survival were 45.5% and 85%, which decreased to 40.7% and 76% after 3 years. The study is ongoing in an additional 39 patients.
Conclusion:
We have established a cohort of clinically and genomically characterized osteosarcomas. There is an urgent need for improved prognostic markers and personalized treatment strategies in pediatric osteosarcoma to enhance therapeutic approaches and patient survival.