Related Experiment Video
Updated: Jul 14, 2026
An Orthotopic Bladder Cancer Model for Gene Delivery Studies
Published on: December 1, 2013
Monitoring circulating tumor DNA by recurrent hotspot mutations in bladder cancer
Shigehiro Tsukahara1,2, Masaki Shiota3, Takashi Matsumoto1
1Department of Urology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
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 scan. Furthermore, the detection of ctDNA at the first visit after radical cystectomy was associated with recurrence free survival (P = 0.0043) and overall survival (P = 0.017). The patient who received neoadjuvant chemotherapy (NAC) and diagnosed as ypT0 belonged to the nonrecurrence group with negative ctDNA.
Conclusion:
Hotspot mutation is promising biomarker to predict earlier recurrence than CT-scan. Multiple detection of mutations in cfDNA contributes to reliable recurrence prediction.
Related Concept Videos
02:18Cancer
02:36DNA Damage can Stall the Cell Cycle
02:07Tumor Progression
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
02:53Adaptive Mechanisms in Cancer Cells
Some of the advantages that cancer cells have on normal cells include - enhanced ability to divide without terminally differentiating, induce new blood vessel formation,...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
02:36DNA Damage Can Stall the Cell Cycle