5‐Hydroxymethylcytosine Profiles of cfDNA in Urine as Diagnostic, Differential Diagnosis and Prognostic Markers for Multiple Myeloma
ABSTRACT Background An effective urine‐based method for the diagnosis, differential diagnosis and prognosis of multiple myeloma (MM) has not yet been developed. Urine cell‐free DNA (cfDNA) carrying cancer‐specific genetic and epigenetic aberrations may enable a noninvasive “liquid biopsy” for diagno...
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Wiley
2024-12-01
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| Series: | Cancer Medicine |
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| Online Access: | https://doi.org/10.1002/cam4.70477 |
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| author | Weiwei Xie Xuehui Li Hangyu Chen Jinlin Chu Lei Zhang Bo Tang Wenrong Huang Linlin Li Jian Lin Yujun Dong |
| author_facet | Weiwei Xie Xuehui Li Hangyu Chen Jinlin Chu Lei Zhang Bo Tang Wenrong Huang Linlin Li Jian Lin Yujun Dong |
| author_sort | Weiwei Xie |
| collection | DOAJ |
| description | ABSTRACT Background An effective urine‐based method for the diagnosis, differential diagnosis and prognosis of multiple myeloma (MM) has not yet been developed. Urine cell‐free DNA (cfDNA) carrying cancer‐specific genetic and epigenetic aberrations may enable a noninvasive “liquid biopsy” for diagnosis and monitoring of cancer. Methods We first identified MM‐specific hydroxymethylcytosine signatures by comparing 64 MM patients, 23 amyloidosis (AM) patients and 59 healthy cohort. Then, we applied a machine learning algorithm to develop diagnostic and differential diagnosis model. Finally, the prognosis of MM patients was predicted based on their survival time at the last follow‐up. Results We identified 11 5hmC markers using logistic regression algorithm could effectively diagnosis MM (AUC = 0.902), and achieved 85.00% specificity and 85.71% sensitivity. These 11 markers could also effectively differential diagnosis MM (AUC = 0.805) with 88.89% specificity and 73.08% sensitivity. In addition, the prognostic prediction model also effectively predicted the prognosis of patients with MM (p < 0.01), of which 4 differential markers (RAPGEF2, BRD1, TET2, TRAF3IP2) could independently predict the prognosis of MM. Conclusions Together, our findings showed the value of urine cfDNA hydroxymethylcytosine markers in the diagnosis, differential diagnosis and prognosis of MM. Meantime, our study provides a promising and completely non‐invasive method for the diagnosis, differential diagnosis and prognosis prediction of MM. |
| format | Article |
| id | doaj-art-df62a3722a8b4d31a341bd45fe394601 |
| institution | Kabale University |
| issn | 2045-7634 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Cancer Medicine |
| spelling | doaj-art-df62a3722a8b4d31a341bd45fe3946012025-01-20T10:51:32ZengWileyCancer Medicine2045-76342024-12-011324n/an/a10.1002/cam4.704775‐Hydroxymethylcytosine Profiles of cfDNA in Urine as Diagnostic, Differential Diagnosis and Prognostic Markers for Multiple MyelomaWeiwei Xie0Xuehui Li1Hangyu Chen2Jinlin Chu3Lei Zhang4Bo Tang5Wenrong Huang6Linlin Li7Jian Lin8Yujun Dong9Department of Hematology Peking University First Hospital Beijing People's Republic of ChinaDepartment of Pharmacology Xinjiang Medical University Urumqi ChinaDepartment of Pharmacy Peking University Third Hospital Beijing ChinaDepartment of Pharmacology Xinjiang Medical University Urumqi ChinaDepartment of Pharmacy Peking University Third Hospital Beijing ChinaDepartment of Hematology Peking University First Hospital Beijing People's Republic of ChinaDepartment of Hematology Fifth Medical Center, General Hospital of the People's Liberation Army Beijing People's Republic of ChinaDepartment of Pharmacology Xinjiang Medical University Urumqi ChinaDepartment of Pharmacy Peking University Third Hospital Beijing ChinaDepartment of Hematology Peking University First Hospital Beijing People's Republic of ChinaABSTRACT Background An effective urine‐based method for the diagnosis, differential diagnosis and prognosis of multiple myeloma (MM) has not yet been developed. Urine cell‐free DNA (cfDNA) carrying cancer‐specific genetic and epigenetic aberrations may enable a noninvasive “liquid biopsy” for diagnosis and monitoring of cancer. Methods We first identified MM‐specific hydroxymethylcytosine signatures by comparing 64 MM patients, 23 amyloidosis (AM) patients and 59 healthy cohort. Then, we applied a machine learning algorithm to develop diagnostic and differential diagnosis model. Finally, the prognosis of MM patients was predicted based on their survival time at the last follow‐up. Results We identified 11 5hmC markers using logistic regression algorithm could effectively diagnosis MM (AUC = 0.902), and achieved 85.00% specificity and 85.71% sensitivity. These 11 markers could also effectively differential diagnosis MM (AUC = 0.805) with 88.89% specificity and 73.08% sensitivity. In addition, the prognostic prediction model also effectively predicted the prognosis of patients with MM (p < 0.01), of which 4 differential markers (RAPGEF2, BRD1, TET2, TRAF3IP2) could independently predict the prognosis of MM. Conclusions Together, our findings showed the value of urine cfDNA hydroxymethylcytosine markers in the diagnosis, differential diagnosis and prognosis of MM. Meantime, our study provides a promising and completely non‐invasive method for the diagnosis, differential diagnosis and prognosis prediction of MM.https://doi.org/10.1002/cam4.704775‐hydroxymethylcytosine (5hmC)diagnosticdifferential diagnosismultiple myelomaprognosticurine |
| spellingShingle | Weiwei Xie Xuehui Li Hangyu Chen Jinlin Chu Lei Zhang Bo Tang Wenrong Huang Linlin Li Jian Lin Yujun Dong 5‐Hydroxymethylcytosine Profiles of cfDNA in Urine as Diagnostic, Differential Diagnosis and Prognostic Markers for Multiple Myeloma Cancer Medicine 5‐hydroxymethylcytosine (5hmC) diagnostic differential diagnosis multiple myeloma prognostic urine |
| title | 5‐Hydroxymethylcytosine Profiles of cfDNA in Urine as Diagnostic, Differential Diagnosis and Prognostic Markers for Multiple Myeloma |
| title_full | 5‐Hydroxymethylcytosine Profiles of cfDNA in Urine as Diagnostic, Differential Diagnosis and Prognostic Markers for Multiple Myeloma |
| title_fullStr | 5‐Hydroxymethylcytosine Profiles of cfDNA in Urine as Diagnostic, Differential Diagnosis and Prognostic Markers for Multiple Myeloma |
| title_full_unstemmed | 5‐Hydroxymethylcytosine Profiles of cfDNA in Urine as Diagnostic, Differential Diagnosis and Prognostic Markers for Multiple Myeloma |
| title_short | 5‐Hydroxymethylcytosine Profiles of cfDNA in Urine as Diagnostic, Differential Diagnosis and Prognostic Markers for Multiple Myeloma |
| title_sort | 5 hydroxymethylcytosine profiles of cfdna in urine as diagnostic differential diagnosis and prognostic markers for multiple myeloma |
| topic | 5‐hydroxymethylcytosine (5hmC) diagnostic differential diagnosis multiple myeloma prognostic urine |
| url | https://doi.org/10.1002/cam4.70477 |
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