Genomic landscape of platinum resistant and sensitive testicular cancers.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 32366847.
- Also identified by DOI 10.1038/s41467-020-15768-x and PMC identifier 7198558.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing and copy number analysis in 40 tumours from 26 cases with platinum-resistant TGCT, and combine this with published genomic data on an additional 624 TGCTs. We integrate analyses for driver mutations, mutational burden, global, arm-level and focal copy number (CN) events, and SNV and CN signatures. Albeit preliminary and observational in nature, these analyses provide support for a possible mechanistic link between early driver mutations in RAS and KIT and the widespread copy number events by which TGCT is characterised.
Medical subject headings
- Drug Resistance, Neoplasm
- Genomics
- Neoplasms, Germ Cell and Embryonal
- Platinum
- Testicular Neoplasms