PD46-05 GENETIC ABERRATIONS IDENTIFIED IN FOCAL BARBOTAGES– a COMPLEMENTARY DIAGNOSTIC TOOL IN UPPER TRACT UROTHELIAL CARCINOMA (UTUC)

Axelsson, Tomas; Sydén, Filip; Eisfeldt, Jesper; Eriksson, Ylva Ulfsdotter; Lundberg, Gustav Göthner; Grahn, Alexandra; Tham, Emma; Brehmer, Marianne

doi:10.1097/ju.0000000000003359.05

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“…Patients were diagnosed between 2018 and 2020 and were followed-up routinely (with regular URS, CT scans, urine cytology, cystoscopy and bladder wash cytology) to censor date (February 2023) or death. A next-generation sequencing (NGS) gene panel consisting of 387 genes was performed on barbotage specimens obtained at URS at diagnosis or local recurrence for genetic characterisation of all tumours prior to inclusion [ 12 ]. The NGS gene panel was performed as previously published [ 13 ].…”

Section: Methodsmentioning

confidence: 99%

Patient-specific targeted analysis of circulating tumour DNA in plasma is feasible and may be a potential biomarker in UTUC

Mu,

Jylhä,

Axelsson

et al. 2023

World J Urol

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Purpose The prognosis of upper urinary tract urothelial carcinoma (UTUC) is associated with tumour grade (G) and stage. Despite preoperative risk stratification and radical treatment, recurrence and progression are common. Thus, prognostic and monitoring biomarkers are needed. This feasibility study aimed to investigate if targeted analyses on circulating tumour DNA (ctDNA) in plasma could identify tumour-specific gene variants, and thus have potential for further evaluation as a biomarker in UTUC. Methods Nine UTUC patients with genetically characterised tumours were included in this prospective pilot study. Two tumour-specific variants were chosen for targeted analyses with multiplex droplet digital PCR on cell-free DNA (cfDNA) from plasma at diagnosis or from recurrence. Results Of six patients with diagnostic plasma samples, ctDNA was detected in four with G2 or G3 tumours and tumours > 300m2 in size. Three of these patients progressed in their disease and the fourth had the largest G3 tumour at sampling. In contrast, the two patients with undetectable ctDNA in diagnostic plasma had a G1 tumour and G3 carcinoma in situ (CIS), respectively. The patient with G3 CIS had detectable ctDNA later during follow-up and progressed thereafter with aggressive intravesical recurrence and CT-scan-verified CIS progression in the upper urinary tract. In three patients with small recurrent G1 or G2 tumours, none had detectable ctDNA in plasma and all were progression free. Conclusion Our early findings demonstrate that ctDNA in plasma can be detected by targeted analysis in patients with UTUC. However, further studies are needed to determine its role as a potential biomarker.

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Section: Methodsmentioning

confidence: 99%