Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancer
ObjectiveThis study aimed to identify tumor-derived DNA in Papanicolaou (Pap) smears and plasma specimens from patients with endometrial cancer or endometrial intraepithelial neoplasia (EC/EIN).MethodsTumor tissue, peripheral blood, and Pap smear samples were collected from 84 patients with EC and E...
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Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1570938/full |
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| author | Yao Wang Jia-Xin Yang Mei Yu |
| author_facet | Yao Wang Jia-Xin Yang Mei Yu |
| author_sort | Yao Wang |
| collection | DOAJ |
| description | ObjectiveThis study aimed to identify tumor-derived DNA in Papanicolaou (Pap) smears and plasma specimens from patients with endometrial cancer or endometrial intraepithelial neoplasia (EC/EIN).MethodsTumor tissue, peripheral blood, and Pap smear samples were collected from 84 patients with EC and EIN. Somatic mutations in tumor specimens were analyzed using targeted exome sequencing with a 363-cancer-related gene panel. Circulating single-molecule amplification and resequencing technology (cSMART) was used to evaluate somatic mutations in Pap smear and plasma circulating cell-free DNA (cfDNA).ResultsHigher pathological grades and lymph node metastases in EC were associated with elevated plasma cfDNA concentrations (p < 0.05 for both). Mutations corresponding to tissue samples were identified in 42.9% of plasma cfDNA and 77.4% of Pap smear cfDNA, with Pap smears demonstrating a higher detection rate (p < 0.05). In patients with EC, the detection rate of consistent mutations in cfDNA from peripheral blood was significantly elevated in those with higher pathological grades, lymphovascular space involvement, and lymph node metastasis (p < 0.05). The detection rate of consistent mutations in cfDNA from Pap smears was significantly higher in the EC group (p < 0.001).ConclusionMulti-gene panels can detect tumor-derived DNA in cfDNA from both blood and Pap smears of patients with EC, with Pap smear cfDNA potentially offering higher efficacy for liquid biopsies in EC. This approach could complement tissue biopsies for early diagnosis and risk stratification, warranting further investigation into the clinical utility of liquid biopsies for EC management. |
| format | Article |
| id | doaj-art-3482776830304f1abaee06dfe9d1b2f6 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-3482776830304f1abaee06dfe9d1b2f62025-08-20T03:59:44ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-08-011510.3389/fonc.2025.15709381570938Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancerYao Wang0Jia-Xin Yang1Mei Yu2Department of Obstetrics and Gynecology, China-Japan Friendship Hospital, Beijing, ChinaDepartment of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, ChinaDepartment of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, ChinaObjectiveThis study aimed to identify tumor-derived DNA in Papanicolaou (Pap) smears and plasma specimens from patients with endometrial cancer or endometrial intraepithelial neoplasia (EC/EIN).MethodsTumor tissue, peripheral blood, and Pap smear samples were collected from 84 patients with EC and EIN. Somatic mutations in tumor specimens were analyzed using targeted exome sequencing with a 363-cancer-related gene panel. Circulating single-molecule amplification and resequencing technology (cSMART) was used to evaluate somatic mutations in Pap smear and plasma circulating cell-free DNA (cfDNA).ResultsHigher pathological grades and lymph node metastases in EC were associated with elevated plasma cfDNA concentrations (p < 0.05 for both). Mutations corresponding to tissue samples were identified in 42.9% of plasma cfDNA and 77.4% of Pap smear cfDNA, with Pap smears demonstrating a higher detection rate (p < 0.05). In patients with EC, the detection rate of consistent mutations in cfDNA from peripheral blood was significantly elevated in those with higher pathological grades, lymphovascular space involvement, and lymph node metastasis (p < 0.05). The detection rate of consistent mutations in cfDNA from Pap smears was significantly higher in the EC group (p < 0.001).ConclusionMulti-gene panels can detect tumor-derived DNA in cfDNA from both blood and Pap smears of patients with EC, with Pap smear cfDNA potentially offering higher efficacy for liquid biopsies in EC. This approach could complement tissue biopsies for early diagnosis and risk stratification, warranting further investigation into the clinical utility of liquid biopsies for EC management.https://www.frontiersin.org/articles/10.3389/fonc.2025.1570938/fullendometrial cancerendometrial intraepithelial neoplasialiquid biopsycell-free DNAcSMART |
| spellingShingle | Yao Wang Jia-Xin Yang Mei Yu Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancer Frontiers in Oncology endometrial cancer endometrial intraepithelial neoplasia liquid biopsy cell-free DNA cSMART |
| title | Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancer |
| title_full | Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancer |
| title_fullStr | Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancer |
| title_full_unstemmed | Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancer |
| title_short | Evaluation of cell-free DNA from papanicolaou smears and peripheral blood to detect endometrial cancer |
| title_sort | evaluation of cell free dna from papanicolaou smears and peripheral blood to detect endometrial cancer |
| topic | endometrial cancer endometrial intraepithelial neoplasia liquid biopsy cell-free DNA cSMART |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1570938/full |
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