Subclonal Somatic Copy-Number Alterations Emerge and Dominate in Recurrent Osteosarcoma.

ABSTRACT: Multiple large-scale genomic profiling efforts have been undertaken in osteosarcoma to define the genomic drivers of tumorigenesis, therapeutic response, and disease recurrence. The spatial and temporal intratumor heterogeneity could also play a role in promoting tumor growth and treatment resistance. We conducted longitudinal whole-genome sequencing of 37 tumor samples from 8 patients with relapsed or refractory osteosarcoma. Each patient had at least one sample from a primary site and a metastatic or relapse site. Subclonal copy-number alterations were identified in all patients except one. In 5 patients, subclones from the primary tumor emerged and dominated at subsequent relapses. MYC gain/amplification was enriched in the treatment-resistant clones in 6 of 7 patients with multiple clo

SUBMITTER: Kinnaman MD 

PROVIDER: S-EPMC10646480 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature