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Review
. 2020 Jul 15:4:PO.20.00060.
doi: 10.1200/PO.20.00060. eCollection 2020.

Emerging Roles of Urine-Based Tumor DNA Analysis in Bladder Cancer Management

Aadel A Chaudhuri  1   2   3   4   5 , Bruna Pellini  5   6 , Nadja Pejovic  1 , Pradeep S Chauhan  1 , Peter K Harris  1 , Jeffrey J Szymanski  1   5 , Zachary L Smith  5   7 , Vivek K Arora  5   6
Affiliations
Review

Emerging Roles of Urine-Based Tumor DNA Analysis in Bladder Cancer Management

Aadel A Chaudhuri et al. JCO Precis Oncol. .
No abstract available

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Conflict of interest statement

The following represents disclosure information provided by authors of this manuscript. All relationships are considered compensated unless otherwise noted. Relationships are self-held unless noted. I = Immediate Family Member, Inst = My Institution. Relationships may not relate to the subject matter of this manuscript. For more information about ASCO's conflict of interest policy, please refer to www.asco.org/rwc or ascopubs.org/po/author-center. Open Payments is a public database containing information reported by companies about payments made to US-licensed physicians (Open Payments). Aadel A. ChaudhuriStock and Other Ownership Interests: Geneoscopy Honoraria: Foundation Medicine, Roche Consulting or Advisory Role: Geneoscopy, Roche, Fenix Group International, Tempus Patents, Royalties, Other Intellectual Property: US Patent No. US8685727B2 Travel, Accommodations, Expenses: Roche, Foundation Medicine Other Relationship: RocheVivek K. AroraStock and Other Ownership Interests: ORIC Pharmaceuticals Consulting or Advisory Role: H3 Biomedicine, Bristol Myers Squibb, Seattle Genetics/Astellas Research Funding: ORIC Pharmaceuticals Travel, Accommodations, Expenses: H3 Biomedicine, Bristol Myers Squibb No other potential conflicts of interest were reported.

Figures

FIG 1.
FIG 1.
Significantly mutated genes in bladder cancer. Bar graphs represent the frequencies of overlapping driver genes mutated in non–muscle-invasive bladder cancer (NMIBC) and muscle-invasive bladder cancer (MIBC) at rates > 7% as reported in Table S4 of the Memorial Sloan Kettering (MSK) 2017 study and Figure 1 of The Cancer Genome Atlas (TCGA) 2017 study, respectively. For the FGFR3 mutational frequency in MIBC, we summed the single-nucleotide variant/indel rate (14%) with the fusion rate (2%) as reported in TCGA 2017. For TERT promoter mutations, the data for both MIBC and NMIBC are from the MSK 2017 study, as the TERT promoter region was not sequenced by TCGA.
FIG 2.
FIG 2.
Origins of urinary DNA, methods of urinary tumor DNA (utDNA) detection, and potential clinical applications in bladder cancer. American Joint Committee on Cancer (ed 8) T staging is represented, with pictorial representations of carcinoma in situ (CIS), non–muscle-invasive bladder cancer (NMIBC), and muscle-invasive bladder cancer (MIBC). Commercial urine-based assays are also depicted, associated with the urine components they analyze. A representative electropherogram is shown of urinary DNA from a patient with cancer. Next-generation sequencing (NGS) and polymerase chain reaction (PCR)–based methods of utDNA detection are shown, as are potential clinical applications of utDNA analysis. cfDNA, cell-free DNA; ddPCR, digital droplet PCR; MRD, minimal residual disease; tx, treatment; uCAPP-Seq, urine Cancer Personalized Profiling by deep Sequencing; WGS, whole-genome sequencing.
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