Integrated analysis of oral rinse-derived and plasma circulating tumour DNA for mutation profiling and outcome prediction with oral squamous cell carcinoma
Abstract This study evaluates the potential of oral rinse-derived and plasma circulating tumour DNA (ctDNA) in HPV-negative oral squamous cell carcinoma (OSCC), where early recurrence occurs in a significant proportion of patients, contributing to poor prognosis. Analysis of paired tissue, oral rins...
Saved in:
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2025-06-01
|
| Series: | npj Precision Oncology |
| Online Access: | https://doi.org/10.1038/s41698-025-00976-9 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849335736469291008 |
|---|---|
| author | Zhuo Chen Lihuang Chen Shuaize Li Peng Xia Alfred King-yin Lam Jie Qiao Yi Liu Bin Qiao |
| author_facet | Zhuo Chen Lihuang Chen Shuaize Li Peng Xia Alfred King-yin Lam Jie Qiao Yi Liu Bin Qiao |
| author_sort | Zhuo Chen |
| collection | DOAJ |
| description | Abstract This study evaluates the potential of oral rinse-derived and plasma circulating tumour DNA (ctDNA) in HPV-negative oral squamous cell carcinoma (OSCC), where early recurrence occurs in a significant proportion of patients, contributing to poor prognosis. Analysis of paired tissue, oral rinse, and plasma samples from 123 patients revealed ctDNA detection rates of 94.3% in oral rinse and 80.5% in plasma samples. Combined testing improved mutation detection sensitivity to 48.6%. A machine learning model integrating seven mutated genes (TP53, TERT, IKZF1, EP300, MYC, EGFR, PIK3CA) and clinical factors demonstrated robust prediction of recurrence (validation AUC: 0.854) and survival outcomes. Integration of pretreatment plasma ctDNA status further enhanced predictive performance. In longitudinal analysis, ctDNA detected recurrence approximately four months before clinical manifestation. These findings suggest that integrated ctDNA analysis offers improved mutation profiling and outcome prediction, potentially enabling earlier interventions in OSCC. |
| format | Article |
| id | doaj-art-0362264aae5b4c938c3dec3c25acf3cc |
| institution | Kabale University |
| issn | 2397-768X |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | npj Precision Oncology |
| spelling | doaj-art-0362264aae5b4c938c3dec3c25acf3cc2025-08-20T03:45:11ZengNature Portfolionpj Precision Oncology2397-768X2025-06-019111610.1038/s41698-025-00976-9Integrated analysis of oral rinse-derived and plasma circulating tumour DNA for mutation profiling and outcome prediction with oral squamous cell carcinomaZhuo Chen0Lihuang Chen1Shuaize Li2Peng Xia3Alfred King-yin Lam4Jie Qiao5Yi Liu6Bin Qiao7Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Zhengzhou UniversityDepartment of Anatomy and Histology, School of Basic Medical Sciences, Lanzhou UniversitySchool of Medicine & Dentistry, Griffith UniversityPilot Base of Food Microbial Resources Utilization of Hubei Province, School of Life Science and Technology, Wuhan Polytechnic UniversityState Key Laboratory of Biocatalysis and Enzyme Engineering, School of Life Sciences, Hubei UniversityDepartment of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Zhengzhou UniversityAbstract This study evaluates the potential of oral rinse-derived and plasma circulating tumour DNA (ctDNA) in HPV-negative oral squamous cell carcinoma (OSCC), where early recurrence occurs in a significant proportion of patients, contributing to poor prognosis. Analysis of paired tissue, oral rinse, and plasma samples from 123 patients revealed ctDNA detection rates of 94.3% in oral rinse and 80.5% in plasma samples. Combined testing improved mutation detection sensitivity to 48.6%. A machine learning model integrating seven mutated genes (TP53, TERT, IKZF1, EP300, MYC, EGFR, PIK3CA) and clinical factors demonstrated robust prediction of recurrence (validation AUC: 0.854) and survival outcomes. Integration of pretreatment plasma ctDNA status further enhanced predictive performance. In longitudinal analysis, ctDNA detected recurrence approximately four months before clinical manifestation. These findings suggest that integrated ctDNA analysis offers improved mutation profiling and outcome prediction, potentially enabling earlier interventions in OSCC.https://doi.org/10.1038/s41698-025-00976-9 |
| spellingShingle | Zhuo Chen Lihuang Chen Shuaize Li Peng Xia Alfred King-yin Lam Jie Qiao Yi Liu Bin Qiao Integrated analysis of oral rinse-derived and plasma circulating tumour DNA for mutation profiling and outcome prediction with oral squamous cell carcinoma npj Precision Oncology |
| title | Integrated analysis of oral rinse-derived and plasma circulating tumour DNA for mutation profiling and outcome prediction with oral squamous cell carcinoma |
| title_full | Integrated analysis of oral rinse-derived and plasma circulating tumour DNA for mutation profiling and outcome prediction with oral squamous cell carcinoma |
| title_fullStr | Integrated analysis of oral rinse-derived and plasma circulating tumour DNA for mutation profiling and outcome prediction with oral squamous cell carcinoma |
| title_full_unstemmed | Integrated analysis of oral rinse-derived and plasma circulating tumour DNA for mutation profiling and outcome prediction with oral squamous cell carcinoma |
| title_short | Integrated analysis of oral rinse-derived and plasma circulating tumour DNA for mutation profiling and outcome prediction with oral squamous cell carcinoma |
| title_sort | integrated analysis of oral rinse derived and plasma circulating tumour dna for mutation profiling and outcome prediction with oral squamous cell carcinoma |
| url | https://doi.org/10.1038/s41698-025-00976-9 |
| work_keys_str_mv | AT zhuochen integratedanalysisoforalrinsederivedandplasmacirculatingtumourdnaformutationprofilingandoutcomepredictionwithoralsquamouscellcarcinoma AT lihuangchen integratedanalysisoforalrinsederivedandplasmacirculatingtumourdnaformutationprofilingandoutcomepredictionwithoralsquamouscellcarcinoma AT shuaizeli integratedanalysisoforalrinsederivedandplasmacirculatingtumourdnaformutationprofilingandoutcomepredictionwithoralsquamouscellcarcinoma AT pengxia integratedanalysisoforalrinsederivedandplasmacirculatingtumourdnaformutationprofilingandoutcomepredictionwithoralsquamouscellcarcinoma AT alfredkingyinlam integratedanalysisoforalrinsederivedandplasmacirculatingtumourdnaformutationprofilingandoutcomepredictionwithoralsquamouscellcarcinoma AT jieqiao integratedanalysisoforalrinsederivedandplasmacirculatingtumourdnaformutationprofilingandoutcomepredictionwithoralsquamouscellcarcinoma AT yiliu integratedanalysisoforalrinsederivedandplasmacirculatingtumourdnaformutationprofilingandoutcomepredictionwithoralsquamouscellcarcinoma AT binqiao integratedanalysisoforalrinsederivedandplasmacirculatingtumourdnaformutationprofilingandoutcomepredictionwithoralsquamouscellcarcinoma |