Prognostic impact of copy number alterations and tumor mutational burden in carcinoma of unknown primary.
Tilmann BochtlerTimothy WohlfrommThomas HielscherDamian StichelMaria PouyiourouBianca KraftOlaf NeumannVolker EndrisAndreas von DeimlingAlbrecht StenzingerAlwin KrämerPublished in: Genes, chromosomes & cancer (2022)
Overall, CNV, chromothripsis, TMB, and MSI profiles in CUP are reminiscent of biological characteristics known from other cancer entities without a unifying CUP-specific signature. Markedly, high-level CNV loss is an adverse predictive biomarker in localized but not disseminated chemotherapy-treated CUP. This implies that chromosomal losses drive CUP progression, but also increase susceptibility to chemotherapy, with both effects apparently leveling out in disseminated CUP.