The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience
BackgroundThe molecular classification of endometrial cancer (EC), as proposed by The Cancer Genome Atlas (TCGA), has transformed tumor classification, but there is a lack of extensive research on the molecular profiles and subtyping of endometrial cancer patients in China.Methods200 EC patients wer...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2025.1541562/full |
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| author | Qian Zheng Qian Zheng Qian Zheng Di Shao Jin Shu Jin Shu Jin Shu Qin Zhang Qin Zhang Qin Zhang Min Huang Dong Wang Dong Wang Dong Wang Dongling Zou Dongling Zou Dongling Zou |
| author_facet | Qian Zheng Qian Zheng Qian Zheng Di Shao Jin Shu Jin Shu Jin Shu Qin Zhang Qin Zhang Qin Zhang Min Huang Dong Wang Dong Wang Dong Wang Dongling Zou Dongling Zou Dongling Zou |
| author_sort | Qian Zheng |
| collection | DOAJ |
| description | BackgroundThe molecular classification of endometrial cancer (EC), as proposed by The Cancer Genome Atlas (TCGA), has transformed tumor classification, but there is a lack of extensive research on the molecular profiles and subtyping of endometrial cancer patients in China.Methods200 EC patients were classified into the following four molecular types: (i) POLEmut; (ii) MSI-H; (iii) TP53mut; (iv) NSMP. This study aimed to investigate the molecular characteristics of EC patients at a single center by large-scale next generation sequencing(NGS), including clinicopathological features and gene mutations in patients with distinct molecular types, and to assess the relevance of molecular subtyping for postoperative adjuvant therapy.ResultsNSMP group was the most prevalent, comprising 46.0% (92/200) of cases, followed by the TP53mut group at 17.5% (35/200), the MSI-H group at 23.5% (47/200), and the POLEmut group at 13.0% (26/200). CTNNB1 mutations were common in the POLEmut group but rare in the TP53mut group. With the application of the new European Society for Medical Oncology (ESMO) 2022 classification, 27 patients (14.1%) were reclassified. Concordance between the two classifications regarding postoperative risk was observed in 85.9% (165/192) of cases. Seven patients (3.6%) were downstaged, and twenty patients (10.4%) were upgraded. Additionally, the analysis revealed that eleven genes were significantly mutated in patients with lymphovascular space invasion (LVSI) compared to those without LVSI. Notably, NSD3 and POLD1 were highly mutated in patients with lymphatic metastasis compared to those without lymphatic metastasis. Conclusively, large-scale NGS has revolutionized EC management by facilitating rapid molecular subtype identification, guiding tailored adjuvant therapies, targeted treatments, and immunotherapies, and efficiently screening for Lynch syndrome, thereby significantly improving patient outcomes. |
| format | Article |
| id | doaj-art-0fdf1dc6f7974f18893d5d350780ef82 |
| institution | Kabale University |
| issn | 2234-943X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Oncology |
| spelling | doaj-art-0fdf1dc6f7974f18893d5d350780ef822025-02-06T05:21:47ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2025-02-011510.3389/fonc.2025.15415621541562The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experienceQian Zheng0Qian Zheng1Qian Zheng2Di Shao3Jin Shu4Jin Shu5Jin Shu6Qin Zhang7Qin Zhang8Qin Zhang9Min Huang10Dong Wang11Dong Wang12Dong Wang13Dongling Zou14Dongling Zou15Dongling Zou16Department of Gynecologic Oncology, Chongqing University Cancer Hospital, Chongqing, ChinaChongqing Specialized Medical Research Center of Ovarian Cancer, Chongqing, ChinaOrganoid Transformational Research Center, Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital, Chongqing, ChinaBGI Genomics, Shenzhen, ChinaDepartment of Gynecologic Oncology, Chongqing University Cancer Hospital, Chongqing, ChinaChongqing Specialized Medical Research Center of Ovarian Cancer, Chongqing, ChinaOrganoid Transformational Research Center, Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital, Chongqing, ChinaDepartment of Gynecologic Oncology, Chongqing University Cancer Hospital, Chongqing, ChinaChongqing Specialized Medical Research Center of Ovarian Cancer, Chongqing, ChinaOrganoid Transformational Research Center, Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital, Chongqing, ChinaBGI Genomics, Shenzhen, ChinaDepartment of Gynecologic Oncology, Chongqing University Cancer Hospital, Chongqing, ChinaChongqing Specialized Medical Research Center of Ovarian Cancer, Chongqing, ChinaOrganoid Transformational Research Center, Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital, Chongqing, ChinaDepartment of Gynecologic Oncology, Chongqing University Cancer Hospital, Chongqing, ChinaChongqing Specialized Medical Research Center of Ovarian Cancer, Chongqing, ChinaOrganoid Transformational Research Center, Chongqing Key Laboratory of Translational Research for Cancer Metastasis and Individualized Treatment, Chongqing University Cancer Hospital, Chongqing, ChinaBackgroundThe molecular classification of endometrial cancer (EC), as proposed by The Cancer Genome Atlas (TCGA), has transformed tumor classification, but there is a lack of extensive research on the molecular profiles and subtyping of endometrial cancer patients in China.Methods200 EC patients were classified into the following four molecular types: (i) POLEmut; (ii) MSI-H; (iii) TP53mut; (iv) NSMP. This study aimed to investigate the molecular characteristics of EC patients at a single center by large-scale next generation sequencing(NGS), including clinicopathological features and gene mutations in patients with distinct molecular types, and to assess the relevance of molecular subtyping for postoperative adjuvant therapy.ResultsNSMP group was the most prevalent, comprising 46.0% (92/200) of cases, followed by the TP53mut group at 17.5% (35/200), the MSI-H group at 23.5% (47/200), and the POLEmut group at 13.0% (26/200). CTNNB1 mutations were common in the POLEmut group but rare in the TP53mut group. With the application of the new European Society for Medical Oncology (ESMO) 2022 classification, 27 patients (14.1%) were reclassified. Concordance between the two classifications regarding postoperative risk was observed in 85.9% (165/192) of cases. Seven patients (3.6%) were downstaged, and twenty patients (10.4%) were upgraded. Additionally, the analysis revealed that eleven genes were significantly mutated in patients with lymphovascular space invasion (LVSI) compared to those without LVSI. Notably, NSD3 and POLD1 were highly mutated in patients with lymphatic metastasis compared to those without lymphatic metastasis. Conclusively, large-scale NGS has revolutionized EC management by facilitating rapid molecular subtype identification, guiding tailored adjuvant therapies, targeted treatments, and immunotherapies, and efficiently screening for Lynch syndrome, thereby significantly improving patient outcomes.https://www.frontiersin.org/articles/10.3389/fonc.2025.1541562/fullendometrial cancermolecular classificationnext generation sequencing (NGS)adjuvant therapygenetic tumor syndromes |
| spellingShingle | Qian Zheng Qian Zheng Qian Zheng Di Shao Jin Shu Jin Shu Jin Shu Qin Zhang Qin Zhang Qin Zhang Min Huang Dong Wang Dong Wang Dong Wang Dongling Zou Dongling Zou Dongling Zou The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience Frontiers in Oncology endometrial cancer molecular classification next generation sequencing (NGS) adjuvant therapy genetic tumor syndromes |
| title | The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience |
| title_full | The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience |
| title_fullStr | The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience |
| title_full_unstemmed | The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience |
| title_short | The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer: a Chinese experience |
| title_sort | impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer a chinese experience |
| topic | endometrial cancer molecular classification next generation sequencing (NGS) adjuvant therapy genetic tumor syndromes |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2025.1541562/full |
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