Abstract
Identification and quantification of somatic alterations in plasma-derived, circulating tumor DNA (ctDNA) is gaining traction as a non-invasive and cost effective method of disease monitoring in cancer patients, particularly to evaluate response to treatment and monitor for disease recurrence. To our knowledge, genetic analysis of ctDNA in osteosarcoma has not yet been studied. To determine whether somatic alterations can be detected in ctDNA and perhaps applied to patient management in this disease, we collected germline, tumor, and serial plasma samples from pediatric, adolescent, and young adult patients with osteosarcoma and used targeted Next Generation Sequencing (NGS) to identify somatic single nucleotide variants (SNV), insertions and deletions (INDELS), and structural variants (SV) in 7 genes commonly mutated in osteosarcoma. We demonstrate that patient-specific somatic alterations identified through comparison of tumor-germline pairs can be detected and quantified in cell-free DNA of osteosarcoma patients.
Highlights
Osteosarcoma is the most common malignant primary bone tumor
To determine whether somatic alterations can be detected in circulating tumor DNA (ctDNA) and perhaps applied to patient management in this disease, we collected germline, tumor, and serial plasma samples from pediatric, adolescent, and young adult patients with osteosarcoma and used targeted Generation Sequencing (NGS) to identify somatic single nucleotide variants (SNV), insertions and deletions (INDELS), and structural variants (SV) in 7 genes commonly mutated in osteosarcoma
Next Generation Sequencing (NGS) was performed on serially collected plasma samples with matched primary tumor material and peripheral mononuclear cells from 7 patients with osteosarcoma who were at various stages of treatment or post treatment
Summary
Osteosarcoma is the most common malignant primary bone tumor. Since 1970, the use the chemotherapy has improved long-term survival rates from less than 20% to 70%. Prognosis of osteosarcoma is highly dependent on stage at presentation. Patients with localized disease can expect 5-year survival rates as high as 60–78%, but survival drops to 20–30% for those with metastatic disease [4]. A very high fraction of osteosarcoma patients have malignant cells in bone marrow, with a correlation between the presence of tumor cells, clinical stage, and disease progression [5]. Metastatic disease at www.impactjournals.com/oncotarget the time of presentation decreases long-term outcomes from 70% to less than 20% [6] underscoring the need for a comprehensive clinical assay for detection of both macroand micro-metastases
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