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

ESMO Open
Giovanni CrisafulliGiulia Siravegna

Abstract

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 in DNA isolated from other body fluids, such as urine. Unlike blood, urine sampling is non-invasive, can be self-performed, and allows recurrent longitudinal monitoring. The features of tumour DNA that clears from the glomerular filtration barrier, named trans-renal tumour DNA (trtDNA), are largely unexplored. Specimens were collected from 24 patients with KRAS or BRAF mutant metastatic colorectal cancer (mCRC). Driver mutations were assessed by droplet digital PCR (ddPCR) in ctDNA from plasma and trtDNA from urine. Whole exome sequencing (WES) was performed in DNA isolated from tissue, plasma and urine. Out of the 24 CRC cases, only four had sufficient DNA to allow WES analyses in urine and plasma. We found that tumour alterations primarily reside in low molecular weight fragments (less than 112 bp). In patients whose trtDNA was more than 2.69% of the urine derived DNA, cancer-specific molecular alterations, mutational signatures and copy number profiles identified in urine DNA are comparable with those detected in plasm...Continue Reading

References

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Citations

Mar 2, 2021·ESMO Open·L De Mattos-Arruda, G Siravegna
Jul 29, 2021·European Journal of Surgical Oncology : the Journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology·Ryo OhtaHiroshi Yoshida
Aug 28, 2021·Biomedicines·Irina Palacín-AlianaÁngel Ayuso-Sacido
Nov 14, 2021·Molecular Diagnosis & Therapy·Susana Olmedillas-LópezDamián García-Olmo

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Datasets Mentioned

BETA
PRJEB33785

Methods Mentioned

BETA
exome sequencing
urine collection
genotyping
PCR
DNA assay
biopsies
biopsy

Software Mentioned

MuSiCa

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