Carcinogenesis, Teratogenesis & Mutagenesis ›› 2023, Vol. 35 ›› Issue (3): 165-171.doi: 10.3969/j.issn.1004-616x.2023.03.001

   

Clinical value in using droplet digital PCR to detect urinary cfDNA FGFR3 S249C mutation in patients with urothelial carcinoma

ZULIHUMAER Aizimuaji1, ZHAO Huan2, MA Sheng1, GAO Ran3, WANG Yaru1, XIAO Ting1   

  1. 1. State Key Laboratory of Molecular Oncology, Beijing Key Laboratory for Carcinogenesis and Cancer Prevention, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021;
    2. Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021;
    3. Institute of Laboratory Animal Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100021, China
  • Received:2023-03-12 Revised:2023-04-28 Published:2023-06-03

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Abstract: OBJECTIVE：The purpose of this study was to improve diagnostic efficacy of urothelial carcinoma (UC) by using the droplet digital PCR (ddPCR) to detect FGFR3 S249C (fibroblast growth factor receptor 3，FGFR3)mutation in cfDNAs which were extracted from urine of UC patients and in combination with urinary cytology. METHODS：Urine samples were collected from 27 UC patients and DNA samples were extracted. The FGFR3 S249C mutation in urinary cfDNA was detected by ddPCR. Receiver operating characteristic curves (ROC) were applied to evaluate the diagnostic efficacy of urinary cfDNA for patients with unclear urinary cytology but a clear pathological diagnosis of UC. RESULTS：The detection rate of the FGFR3 S249C mutation for UC was 25.9% (7/27). The detection rate of the mutation classified by TPS (The Paris system for reporting urinary cytology) was 18.8% (3/16) in HGUC (high-grade urothelial carcinoma)，50% (4/8) in SHGUC (suspicious for high-grade urothelial carcinoma)，and 0 (0/3) in NHGUC (negative for high-grade urothelial carcinoma). The mutation rate was 25.0% (1/4) in non-invasive UC and 31.6%(6/19)in invasive UC. The detection rate of positive mutation by ddPCR in SHGUC was 50.0% (4/8)，and the area under the ROC for the diagnosis of UC by the mutation was 0.781 with 95% CI (0.407，1.000)，which showed good accuracy for its diagnosis. CONCLUSION：Measurement of the FGFR3 S249C mutation in urinary cfDNA using ddPCR as a non-invasive assay could improve the diagnostic efficacy for UC with unclear urinary cytology diagnosis.

Key words: urothelial carcinoma, cfDNA, ddPCR, FGFR3 S249C mutation, urine cytology

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