Next-generation sequencing (NGS) of cell-free circulating tumor DNA and tumor tissue in patients with advanced urothelial cancer: a pilot assessment of concordance

摘要: Background Advances in cancer genome sequencing have led to the development of various next-generation (NGS) platforms. There is paucity data regarding concordance different NGS tests carried out same patient. Methods Here, we report a pilot analysis 22 patients with metastatic urinary tract and available from paired tumor tissue [FoundationOne (F1)] cell-free circulating DNA (ctDNA) [Guardant360 (G360)]. Results The median time between diagnosis stage IV disease first genomic test was 23.5 days (0-767), after number 0 (0-3) prior systemic lines treatment advanced disease. Most frequent alterations (GA) were found genes TP53 (50.0%), TERT promoter (36.3%); ARID1 (29.5%); FGFR2/3 (20.5%), PIK3CA (20.5%) ERBB2 (18.2%). While identified GA both tests, overall two platforms only 16.4% (0%-50%), 17.1% (0%-50%) for those (n = 6) conducted around (median difference = 36 days). On contrary, subgroup (n = 5) repeated ctDNA 1 therapy average 55.5% (12.1%-100.0%). Tumor mutational burden significantly associated G360 (P < 0.001), known (P = 0.009) variants unknown significance (VUS) F1 total (non-VUS VUS) (P < 0.001). Conclusions This study suggests significant discordance clinically panels urothelial cancer, even when collected time. need better understanding these possibly complementary integration into clinical practice.