Kuijjer Lab

New MedRxiv pre-print

April 21, 2024

We have a new pre-print on MedRxiv, in which we highlight results from whole genome sequencing analysis of in osteosarcoma, done by Debora.

    Profiling WGS on tissue samples from six patients with osteosarcoma, including treatment naïve biopsies, resections, local recurrences, and metastases (see below), we found that SNVs and structural variants accumulate over time, through variable evolutionary patterns. As expected, copy number and LOH profiles were highly complex in all tumors. However, we found that whole-genome duplication can be an early, but also a late event in osteosarcoma. We observed a high amount of chromothripsis, and found that chromothripsis is not confined to a single early event—multiple new chromothripsis events may appear in later occurrences. In addition, potential driver genes often co-localized with chromothripsis events. Together, our findings provide more insight into the extreme degree of osteosarcoma inter-and intra-patient heterogeneity and underscores the complexity of osteosarcoma development and treatment.
    The pre-print can be found here. For more details, please also refer to the pre-prints section.
Driver genes, SNVs and SVs contributing to evolutionary patterns in osteosarcoma.