Genomic landscape of platinum resistant and sensitive testicular cancers

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,...

Descripción completa

Detalles Bibliográficos
Autores principales: Loveday, Chey, Litchfield, Kevin, Proszek, Paula Z., Cornish, Alex J., Santo, Flavia, Levy, Max, Macintyre, Geoff, Holryod, Amy, Broderick, Peter, Dudakia, Darshna, Benton, Barbara, Bakir, Maise Al, Hiley, Crispin, Grist, Emily, Swanton, Charles, Huddart, Robert, Powles, Tom, Chowdhury, Simon, Shipley, Janet, O’Connor, Simon, Brenton, James D., Reid, Alison, de Castro, David Gonzalez, Houlston, Richard S., Turnbull, Clare
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198558/
https://www.ncbi.nlm.nih.gov/pubmed/32366847
http://dx.doi.org/10.1038/s41467-020-15768-x
Descripción
Sumario: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.

Ejemplares similares