Whole exome sequencing analysis of urine trans-renal tumour DNA in metastatic colorectal cancer patients

摘要: Background The analysis of circulating free tumour DNA (ctDNA) in blood, commonly referred as liquid biopsy, is being used to characterise patients with solid cancers. Tumour-specific genetic variants can also be present isolated from other body fluids, such urine. Unlike urine sampling non-invasive, self-performed, and allows recurrent longitudinal monitoring. features that clears the glomerular filtration barrier, named trans-renal (trtDNA), are largely unexplored. Patients methods Specimens were collected 24 KRAS or BRAF mutant metastatic colorectal cancer (mCRC). Driver mutations assessed by droplet digital PCR (ddPCR) ctDNA plasma trtDNA Whole exome sequencing (WES) was performed tissue, Results Out CRC cases, only four had sufficient allow WES analyses plasma. We found alterations primarily reside low molecular weight fragments (less than 112 bp). In whose more 2.69% derived DNA, cancer-specific alterations, mutational signatures copy number profiles identified comparable those detected ctDNA. Conclusions With current technologies, feasible a small fraction mCRC patients. Tumour-related information mainly fragments. Although limited amounts poses analytical challenges, enrichment DNAs optimised computational tools improve detection tumour-specific