Copy number variations in urine cell-free DNA from bladder neoplasm patients
Bladder cancer is a common malignancy, and its diagnosis is based on invasive procedures such as cystoscopy. Genetic aberrations play an important role in the development of many diseases, including bladder cancer. As a result, identifying the genetic basis of a disease can provide useful informatio...
Saved in:
| Main Authors: | , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-10-01
|
| Series: | Molecular and Cellular Probes |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S0890850825000374 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849254296051253248 |
|---|---|
| author | Cuello Garcia Haider Qichao Wang Guangyue Wang Yinfeng Wang Yutong Fu Zhoufan Zhang Changling Cao Fengcheng Xue Haitao Liu Qian Wang Jie Zhou Tingya Jiang Jingyi Cao Yang Zhou |
| author_facet | Cuello Garcia Haider Qichao Wang Guangyue Wang Yinfeng Wang Yutong Fu Zhoufan Zhang Changling Cao Fengcheng Xue Haitao Liu Qian Wang Jie Zhou Tingya Jiang Jingyi Cao Yang Zhou |
| author_sort | Cuello Garcia Haider |
| collection | DOAJ |
| description | Bladder cancer is a common malignancy, and its diagnosis is based on invasive procedures such as cystoscopy. Genetic aberrations play an important role in the development of many diseases, including bladder cancer. As a result, identifying the genetic basis of a disease can provide useful information for early diagnosis and therapy. Cell-free DNA (cfDNA) offers a non-invasive approach to extract genetic information, which could be valuable for establishing the genetic cause of bladder cancer. In this study, we analyzed copy number variations (CNV) in urine cfDNA from 20 patients, with cystoscopy confirmed bladder cancer, sequenced by next-generation sequencing (NGS) and their CNV examined using the whole genome sequence. Statistical analysis of the carcinoma samples included Wilcoxon and Chi-square tests (p ≤ 0.005). Different patterns in CNV were identified in Chromosomes 1, 2, 3, 5, 6, 8, 9, 10, 11, 12, 17, 19, and 20 with the chromosome cytobands showing significant difference in variation patterns in patient parameters, such as smoking habit, number of tumors, grade of the tumors, and invasiveness. The genes that exhibited distinct CNV in each chromosomal cytoband have been associated with the development and progression of various cancers including bladder cancer indicating the clinical significance of CNVs as a useful tool for disease diagnosis. Therefore, this study demonstrates that by using NGS, CNV in urine cfDNA can provide valuable information on the state of blader cancer which can be further utilized to investigate therapies or early diagnosis. |
| format | Article |
| id | doaj-art-0b14e7d53bb84e2a94dbdb950b9f881c |
| institution | Kabale University |
| issn | 0890-8508 |
| language | English |
| publishDate | 2025-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular and Cellular Probes |
| spelling | doaj-art-0b14e7d53bb84e2a94dbdb950b9f881c2025-08-20T03:56:04ZengElsevierMolecular and Cellular Probes0890-85082025-10-018310204410.1016/j.mcp.2025.102044Copy number variations in urine cell-free DNA from bladder neoplasm patientsCuello Garcia Haider0Qichao Wang1Guangyue Wang2Yinfeng Wang3Yutong Fu4Zhoufan Zhang5Changling Cao6Fengcheng Xue7Haitao Liu8Qian Wang9Jie Zhou10Tingya Jiang11Jingyi Cao12Yang Zhou13School of Life Sciences, Jiangsu University, Zhenjiang, 212013, China; Biostatistics, R&D, AlloDx Biotech (Shanghai), Co., Ltd, Shanghai, 201100, China; School of Medicine, Jiangsu University, Zhenjiang, 212013, ChinaDepartment of Urology, Xuzhou Cancer Hospital, Jiangsu University Affiliated Hospital, XuZhou, Jiangsu, 221000, ChinaDepartment of Urology, Xuzhou Cancer Hospital, Jiangsu University Affiliated Hospital, XuZhou, Jiangsu, 221000, ChinaSchool of Life Sciences, Jiangsu University, Zhenjiang, 212013, ChinaDepartment of Acupuncture and Moxibustion Rehabilitation, Danyang Hospital of Traditional Chinese Medicine, Zhenjiang, 212300, ChinaSchool of Life Sciences, Jiangsu University, Zhenjiang, 212013, ChinaBiostatistics, R&D, AlloDx Biotech (Shanghai), Co., Ltd, Shanghai, 201100, ChinaSchool of Life Sciences, Jiangsu University, Zhenjiang, 212013, ChinaBiostatistics, R&D, AlloDx Biotech (Shanghai), Co., Ltd, Shanghai, 201100, ChinaDepartment of Urology, Xuzhou Cancer Hospital, Jiangsu University Affiliated Hospital, XuZhou, Jiangsu, 221000, ChinaDepartment of Urology, Xuzhou Cancer Hospital, Jiangsu University Affiliated Hospital, XuZhou, Jiangsu, 221000, ChinaBiostatistics, R&D, AlloDx Biotech (Shanghai), Co., Ltd, Shanghai, 201100, ChinaDepartment of Urology, Xuzhou Cancer Hospital, Jiangsu University Affiliated Hospital, XuZhou, Jiangsu, 221000, China; Corresponding author.School of Life Sciences, Jiangsu University, Zhenjiang, 212013, China; Corresponding author.Bladder cancer is a common malignancy, and its diagnosis is based on invasive procedures such as cystoscopy. Genetic aberrations play an important role in the development of many diseases, including bladder cancer. As a result, identifying the genetic basis of a disease can provide useful information for early diagnosis and therapy. Cell-free DNA (cfDNA) offers a non-invasive approach to extract genetic information, which could be valuable for establishing the genetic cause of bladder cancer. In this study, we analyzed copy number variations (CNV) in urine cfDNA from 20 patients, with cystoscopy confirmed bladder cancer, sequenced by next-generation sequencing (NGS) and their CNV examined using the whole genome sequence. Statistical analysis of the carcinoma samples included Wilcoxon and Chi-square tests (p ≤ 0.005). Different patterns in CNV were identified in Chromosomes 1, 2, 3, 5, 6, 8, 9, 10, 11, 12, 17, 19, and 20 with the chromosome cytobands showing significant difference in variation patterns in patient parameters, such as smoking habit, number of tumors, grade of the tumors, and invasiveness. The genes that exhibited distinct CNV in each chromosomal cytoband have been associated with the development and progression of various cancers including bladder cancer indicating the clinical significance of CNVs as a useful tool for disease diagnosis. Therefore, this study demonstrates that by using NGS, CNV in urine cfDNA can provide valuable information on the state of blader cancer which can be further utilized to investigate therapies or early diagnosis.http://www.sciencedirect.com/science/article/pii/S0890850825000374Bladder cancerCopy number variationCystoscopyCell-free nucleic acidsGenetic variationUrinary biomarkers |
| spellingShingle | Cuello Garcia Haider Qichao Wang Guangyue Wang Yinfeng Wang Yutong Fu Zhoufan Zhang Changling Cao Fengcheng Xue Haitao Liu Qian Wang Jie Zhou Tingya Jiang Jingyi Cao Yang Zhou Copy number variations in urine cell-free DNA from bladder neoplasm patients Molecular and Cellular Probes Bladder cancer Copy number variation Cystoscopy Cell-free nucleic acids Genetic variation Urinary biomarkers |
| title | Copy number variations in urine cell-free DNA from bladder neoplasm patients |
| title_full | Copy number variations in urine cell-free DNA from bladder neoplasm patients |
| title_fullStr | Copy number variations in urine cell-free DNA from bladder neoplasm patients |
| title_full_unstemmed | Copy number variations in urine cell-free DNA from bladder neoplasm patients |
| title_short | Copy number variations in urine cell-free DNA from bladder neoplasm patients |
| title_sort | copy number variations in urine cell free dna from bladder neoplasm patients |
| topic | Bladder cancer Copy number variation Cystoscopy Cell-free nucleic acids Genetic variation Urinary biomarkers |
| url | http://www.sciencedirect.com/science/article/pii/S0890850825000374 |
| work_keys_str_mv | AT cuellogarciahaider copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT qichaowang copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT guangyuewang copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT yinfengwang copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT yutongfu copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT zhoufanzhang copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT changlingcao copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT fengchengxue copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT haitaoliu copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT qianwang copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT jiezhou copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT tingyajiang copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT jingyicao copynumbervariationsinurinecellfreednafrombladderneoplasmpatients AT yangzhou copynumbervariationsinurinecellfreednafrombladderneoplasmpatients |