Analysis The diagnostic performance of H4C6/SOX1-OT-gene methylation for bladder cancer based on urine sample

Cystoscopy is currently still the main detection method for BCA. The lack of effective triage instruments can lead to a delayed diagnosis and a poor forecast. Therefore, it is urgent to examine a precise, non-invasive and inexpensive diagnostic method with high sensitivity, PPV and NPV in order to ensure that tumors with low and early stages of tumors could be excluded, and patients who can avoid unnecessary cystoscopy. Therefore, the urine-based biomarker examination attracted a lot of attention.

In this study we first discovered the diagnostic performance of the urine-based urine-DNA basis H4C6 Methylation markers on BCA by combining with MIT SOX1-OT. The genetic -relative -methylated level of H4C6 Based on urine sediment, BCA patients were significantly higher¹⁹. However, a published study showed that the level of methylation of SOX1-OT was in combination with the correlated with the steps and degrees of BCA OTX1 Methylation genes, while in our study such a correlation could not be found, which may show its results as combined methylation levels, but not as a combined methylation level SOX1-OT or OTX1 alone²⁰.

Several urine -based organic markers were examined that aim to reduce cystoscopy, and a methylation field with several biomarkers is a common design. For example, several studies have shown OneCut2 Together with other biomarkers (2–5 markers), methylation can successfully distinguish the BCA patients from benign diseases with high sensitivity and NPV^21.22.23. However, the sensitivities for inferior tumors and TA tumors were only 70.0% or 83.3% when used OneCut2 And Vim Two methylation genes²⁴. Guo et al. Used a methylation field combined with 8 markings to identify BCA, which creates a sensitivity of 83% and a specificity of 60%²⁵. Huang et al. Even an oncourin assay, which consisted of a body of 17 gene mutations and a gene methylation -biomarker for the detection of BCA, and the test showed a sensitivity of 92.2% and an NPV of 94.1% on the upper streak hardy carcinoma with hematuria²⁶. However, several methylation gene detections would inevitably lead to increased patient costs. In our study the H4C6/SOX1-OT The diagnostic model of BCA generated an overall sensitivity of 87.9% and a specificity of 90.4% in the modeling cohort, and a similar sensitivity (84.8%) and the specificity (90.0%) were also found in the validating cohort, which indicates the potential diagnostic performance of this combination -methylation model model for BCA diagnosis.

Methods such as urinzytology and fish usually overlooked the early phases of BCA that were extremely difficult to see^11.12. It is therefore clinically important to prove BCA early to reduce morbidity and mortality in connection with the disease. Chen et al. showed that the sensitivity of SOX1-OT/OTX1 For early stadiums of BCA, 69.2-83.3% was²⁰. Another study used Penk As a methylation marker, a sensitivity of 85.7% and 76.8% for TA-T1 and low-grade tumors showed²⁷. In our study the H4C6/SOX1-OT The panel showed 85.4% and 85.0% sensitivity for early stages (TA-T1) or inferior BCA, which indicates the ability to identify an early BCA. In addition, screening on biomarkers with high PPV and NPV is important to reduce unnecessary cystoscopy, which is another urgent problem in the clinic. According to the results of the validation rate in our study, the diagnostic model generated 87.5% PPV and 84.6% NPV and may reduce the 38.4% rate of unnecessary transfers for cystoscopies. However, an additional review of the clinic is required for this data.

However, it should be noted that there are certain restrictions in this study. First, the tested rehearsals came from a single center, and there was no information about medical history such as tumor size, number of tumors, smoking history and cytology results. Second, only a small number of BCA samples were examined in the prospective validation study, which can reduce the statistical performance. Third, the follow-up data were not available in this study, and therefore the performance of our diagnostic model could not be assessed for recurring BCA patients. Although the results of our study have shown that the H4C6/SOX1-OT The methylation model could probably be a non -invasive diagnostic method to identify BCA early, large -scale research results are still necessary to validate the clinical values. These shortcomings are the focus of our current and future research efforts, including the implementation of multicenter studies, to expand the sample size and collect follow-up data to examine the role of H4C6/SOX1-OT Genetic methylation in the diagnosis of recurrent BCA patients.

Taken together, the study showed the promising applications of H4C6/SOX1-OT Methylation based on urine DNA in clinical management of BCA, especially for BCA in the early stages. The employment of H4C6/SOX1-OT Methylation will help reduce the frequency of cystoscopy and thus relieve the economic stress on the patient.