Monitoring circulating tumor DNA by recurrent hotspot mutations in bladder cancer.

ABSTRACT:

Background

Liquid biopsy can evaluate minimally residual disease. Hotspot mutations are also common in non-coding regions among the MIBC patients. We evaluated the status of MIBC with hotspot mutations with cfDNA.

Methods

Tumor and blood from MIBC patients were collected prospectively. We evaluate the VAF of mutations (TERT, PLEKHS1, ADGRG6 and WDR74) with digital PCR in tumor and cfDNA as somatic mutation. We originally designed and validated primers and probes. VAF of cfDNA and clinical imaging were matched. This study was approved by the Institutional Review Board (#2022-157).

Result

37 MIBC patients were enrolled and 28 (76%) patients had any hotspot. Among the 21 patients of follow-up cohort, cfDNA predicted recurrence 58 days earlier than the diagnosis by CT sca

SUBMITTER: Tsukahara S 

PROVIDER: S-EPMC12022302 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature