Genomic distinctions between metastatic lower and upper tract urothelial carcinoma revealed through rapid autopsy.

ABSTRACT:

Background

Little is known about the genomic differences between metastatic urothelial carcinoma (LTUC) and upper tract urothelial carcinoma (UTUC). We compare genomic features of primary and metastatic UTUC and LTUC tumors in a cohort of patients with end stage disease.

Methods

We performed whole exome sequencing on matched primary and metastatic tumor samples (N=37) from 7 patients with metastatic UC collected via rapid autopsy. Inter- and intra-patient mutational burden, mutational signatures, predicted deleterious mutations, and somatic copy alterations (sCNV) were analyzed.

Results

We investigated 3 patients with UTUC (3 primary samples, 13 metastases) and 4 patients with LTUC (4 primary samples, 17 metastases). We found that sSNV burden was higher in metastatic

SUBMITTER: Winters BR 

PROVIDER: S-EPMC6629128 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature