dMMR型子宫内膜癌的分子诊断与免疫治疗进展

刁治方, 冯炜炜

中国实用妇科与产科杂志 ›› 2026, Vol. 42 ›› Issue (4) : 476-480.

PDF(937 KB)
PDF(937 KB)
中国实用妇科与产科杂志 ›› 2026, Vol. 42 ›› Issue (4) : 476-480. DOI: 10.19538/j.fk2026040119
综述与讲座

dMMR型子宫内膜癌的分子诊断与免疫治疗进展

作者信息 +
文章历史 +

引用本文

导出引用
刁治方, 冯炜炜. dMMR型子宫内膜癌的分子诊断与免疫治疗进展[J]. 中国实用妇科与产科杂志. 2026, 42(4): 476-480 https://doi.org/10.19538/j.fk2026040119
中图分类号: R11.6   

参考文献

[1]
Zheng Q, Shao D, Shu J, et al. The impact of integrated genomic analysis on molecular classifications and prognostic risk stratification in endometrial cancer:a Chinese experience[J]. Front Oncol, 2025, 15:1541562. DOI:10.3389/fonc.2025.1541562.
[2]
Zhao L, Li X, Jing Y, et al. Biomarkers and immunotherapy in endometrial cancer:mechanisms and clinical applications[J]. Front Immunol, 2025, 16:1684549. DOI:10.3389/fimmu.2025.1684549.
[3]
李立伟, 董阳阳, 王建六. 子宫内膜癌规范化诊治中的个体化[J]. 中国实用妇科与产科杂志, 2026, 42(1):24-28.DOI:10.19538/j.fk2026010106.
[4]
谢玲玲, 林仲秋. 《国际妇产科联盟(FIGO)2025癌症报告:子宫内膜癌诊治指南》更新解读[J]. 中国实用妇科与产科杂志, 2025, 41(9):928-935. DOI:10.19538/j.fk2025090114.
[5]
李欣然, 陈丽华, 向阳. p53abn型子宫内膜癌研究进展[J]. 中国实用妇科与产科杂志, 2025, 41(3):377-380.DOI:10.19538/j.fk2025030125.
[6]
Galant N, Krawczyk P, Monist M, et al. Molecular Classification of Endometrial Cancer and Its Impact on Therapy Selection[J]. Int J Mol Sci, 2024, 25(11):5893. DOI:10.3390/ijms25115893.
[7]
中国妇幼健康研究会妇产科精准医疗专业委员会, 上海市医学会妇科肿瘤学分会.子宫内膜癌三级预防策略中国专家共识(2025年版)[J]. 中国实用妇科与产科杂志, 2025, 41(10):1004-1011. DOI:10.19538/j.fk2025100110.
[8]
中国研究型医院学会妇产科学专业委员会. 子宫内膜癌分子分型临床应用中国专家共识 (2024 年版)[J]. 中国实用妇科与产科杂志, 2024, 40(6)638-644. DOI:10.19538/j.fk2024060114.
[9]
Moeckel C, Bakhl K, Georgakopoulos-Soares I, et al. The Efficacy of Tumor Mutation Burden as a Biomarker of Response to Immune Checkpoint Inhibitors[J]. Int J Mol Sci, 2023, 24(7):6710. DOI:10.3390/ijms24076710.
[10]
Riedinger CJ, Esnakula A, Haight PJ, et al. Characterization of mismatch-repair/microsatellite instability-discordant endometrial cancers[J]. Cancer, 2024, 130(3):385-399. DOI:10.1002/cncr.35030.
[11]
Ali-Fehmi R, Krause HB, Morris RT, et al. Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors[J]. JCO Precis Oncol, 2024, 8:e2300648. DOI:10.1200/PO.23.00648.
[12]
倪新雨, 屈庆喜, 张师前. 原发性子宫颈透明细胞腺癌32例临床病理分析[J]. 中国实用妇科与产科杂志, 2024, 40(3):344-348. DOI:10.19538/j.fk2024030118.
[13]
Lindemann K, Siegenthaler F, Lande KT, et al. Prognostic value of assessing ctDNA in patients with endometrial carcinoma-an international multicenter study[J]. Gynecologic Oncology, 2025, 195:98-105. DOI:10.1016/j.ygyno.2025.03.002.
[14]
Recio F, Scalise CB, Loar P, et al. Post-surgical ctDNA-based molecular residual disease detection in patients with stage I uterine malignancies[J]. Gynecol Oncol, 2024, 182:63-69. DOI:10.1016/j.ygyno.2023.12.025.
[15]
Huang CC, Ayala-Peacock DN, Stephens SJ, et al. Recent advances in gynecologic radiation oncology[J]. Cancer, 2025, 131(9):e35888. DOI:10.1002/cncr.35888.
[16]
van den Heerik A, Horeweg N, Nout R A, et al. PORTEC-4a:international randomized trial of molecular profile-based adjuvant treatment for women with high-intermediate risk endometrial cancer[J]. Int J Gynecol Cancer, 2020, 30(12):2002-2007. DOI:10.1136/ijgc-2020-001929.
[17]
Horeweg N, Nout RA, Jürgenliemk-Schulz IM, et al. Molecular Classification Predicts Response to Radiotherapy in the Randomized PORTEC-1 and PORTEC-2 Trials for Early-Stage Endometrioid Endometrial Cancer[J]. J Clin Oncol, 2023, 41(27):4369-4380. DOI:10.1200/jco.23.00062.
[18]
Post CCB, de Boer SM, Powell ME, et al. Adjuvant chemoradiotherapy versus radiotherapy alone in women with high-risk endometrial cancer (PORTEC-3): 10-year clinical outcomes and post-hoc analysis by molecular classification from a randomised phase 3 trial[J]. Lancet Oncol, 2025, 26(10):1370-1381. DOI:10.1016/S1470-2045(25)00379-1.
[19]
Mirza MR, Chase DM, Slomovitz BM, et al. Dostarlimab for Primary Advanced or Recurrent Endometrial Cancer[J]. N Engl J Med, 2023, 388(23):2145-2158. DOI:10.1056/NEJMoa2216334.
[20]
Eskander RN, Sill MW, Beffa L, et al. Pembrolizumab plus Chemotherapy in Advanced Endometrial Cancer[J]. N Engl J Med, 2023, 388(23):2159-2170. DOI:10.1056/NEJMoa2302312.
[21]
狄文, 胡逸凡. 妇科肿瘤规范化诊疗中的个体化:从共识到实践的再思考[J]. 中国实用妇科与产科杂志, 2026, 42(1):10-13.DOI:10.19538/j.fk2026010103.
[22]
Powell MA, Bjørge L, Willmott L, et al. Overall survival in patients with endometrial cancer treated with dostarlimab plus carboplatin-paclitaxel in the randomized ENGOT-EN6/GOG-3031/RUBY trial[J]. Ann Oncol, 2024, 35(8):728-738. DOI:10.1016/j.annonc.2024.05.546.
[23]
Powell MA, Cibula D, O'Malley DM, et al. Efficacy and safety of dostarlimab in combination with chemotherapy in patients with dMMR/MSI-H primary advanced or recurrent endometrial cancer in a phase 3,randomized,placebo-controlled trial (ENGOT-EN6-NSGO/GOG-3031/RUBY)[J]. Gynecol Oncol, 2025, 192:40-49. DOI:10.1016/j.ygyno.2024.10.022.
[24]
Eskander RN, Sill MW, Beffa L, et al. Pembrolizumab plus chemotherapy in advanced or recurrent endometrial cancer:overall survival and exploratory analyses of the NRG GY 018 phase 3 randomized trial [J]. Nat Med, 2025, 31(5):1539-1546. DOI:10.1038/s41591-025-03566-1.
[25]
Van Nieuwenhuysen E, Chon HS, Pepin JT, et al. 45P Durvalumab plus carboplatin/paclitaxel followed by durvalumab with/without olaparib as first-line treatment for endometrial cancer:Progression-free survival and safety by age above/below 70 years and with/without clinical obesity in the DUO-E trial[J]. ESMO Open, 2025, 10:5174. DOI:10.1016/j.esmoop.2025.105174.
[26]
Colombo N, Biagioli E, Harano K, et al. Atezolizumab and chemotherapy for advanced or recurrent endometrial cancer (AtTEnd):a randomised,double-blind,placebo-controlled,phase 3 trial[J]. Lancet Oncol, 2024, 25(9):1135-1146. DOI:10.1016/s1470-2045(24)00334-6.
[27]
Kristeleit R, Mathews C, Redondo A, et al. Patient-reported outcomes in the GARNET trial in patients with advanced or recurrent mismatch repair-deficient/microsatellite instability-high endometrial cancer treated with dostarlimab[J]. Int J Gynecol Cancer, 2022, 32(10):1250-1257. DOI:10.1136/ijgc-2022-003492.
[28]
Makker V, Colombo N, Casado Herráez A, et al. Lenvatinib Plus Pembrolizumab in Previously Treated Advanced Endometrial Cancer:Updated Efficacy and Safety From the Randomized PhaseⅢStudy 309/KEYNOTE-775[J]. J Clin Oncol, 2023, 41(16):2904-2910. DOI:10.1200/jco.22.02152.
[29]
Makker V, Colombo N, Casado Herráez A, et al. Lenvatinib plus Pembrolizumab for Advanced Endometrial Cancer[J]. N Engl J Med, 2022, 386(5):437-448. DOI:10.1056/NEJMoa2108330.
[30]
Wu X, Chen X, Wang K, et al. Benmelstobart (TQB2450) combined with anlotinib hydrochloride capsule in the treatment of advanced, recurrent, or metastatic endometrial cancer: A multicohort, open label, multicenter, phaseⅡclinical trial (TQB2450-Ⅱ-08)[J]. J Clin Oncol, 2024, 42(16_suppl):5593. DOI:10.1200/jco.2024.42.16_suppl.5593.
[31]
Kaya M, Horeweg N, Leary A, et al. The RAINBO MMRd-GREEN trial (GCIG/DGOG/ENGOT-EN14):A phase Ⅲ trial on the addition of adjuvant durvalumab to radiotherapy in patients with high-risk MMRd endometrial cancer[J]. J Clin Oncol, 2023, 41(16_suppl):5633. DOI:10.1200/JCO.2023.41.16_suppl.TPS5633.
[32]
RAINBO Research Consortium. Refining adjuvant treatment in endometrial cancer based on molecular features: the RAINBO clinical trial program[J]. Int J Gynecol Cancer, 2023, 33(1):109-117. DOI:10.1136/ijgc-2022-004039.
[33]
Levy A, Massard C, Michiels S, et al. Innovative, early-phase clinical trials of drug-radiotherapy combinations[J]. Lancet Oncol, 2025, 26(4):e190-e202. DOI:10.1016/s1470-2045(24)00664-8.
[34]
Lorusso D, Fucà G. KEYNOTE-B21:a missed opportunity or a turning point in adjuvant immunotherapy for dMMR endometrial cancer?[J]. Ann Oncol, 2024, 35(11):925-927. DOI:10.1016/j.annonc.2024.09.006.
[35]
Slomovitz BM, Cibula D, Lv W, et al. Pembrolizumab or Placebo Plus Adjuvant Chemotherapy With or Without Radiotherapy for Newly Diagnosed,High-Risk Endometrial Cancer:Results in Mismatch Repair-Deficient Tumors[J]. J Clin Oncol, 2025, 43(3):251-259. DOI:10.1200/jco-24-01887.
[36]
Van Gorp T, Cibula D, Lv W, et al. ENGOT-en11/GOG-3053/KEYNOTE-B21:a randomised,double-blind,phase III study of pembrolizumab or placebo plus adjuvant chemotherapy with or without radiotherapy in patients with newly diagnosed,high-risk endometrial cancer[J]. Ann Oncol, 2024, 35(11):968-980. DOI:10.1016/j.annonc.2024.08.2242.
[37]
Cherifi F, Ray-Coquard I, Rubio MJ, et al. DOMENICA:dostarlimab versus chemotherapy alone in first-line MMR-deficient advanced endometrial cancer patients[J]. Future Oncol, 2025, 21(13):1613-1623. DOI:10.1080/14796694.2025.2496133.
[38]
Joly F, Ray-Coquard IL, Rubio MJ, et al. Randomized phase Ⅲ trial in MMR deficient (MMRd) endometrial cancer (EC) patients comparing chemotherapy (CT) alone versus dostarlimab in first line advanced/metastatic setting:DOMENICA study (GINECO-EN105b/ENGOT-en13 study)[J]. J Clin Oncol, 2023, 41(16_suppl):5630. DOI:10.1200/JCO.2023.41.16_suppl.TPS5630.
[39]
Mcalpine JN, Han CZ, Kinloch M, et al. CCTG EN10: A phase Ⅱstudy of tailored adjuvant therapy in POLE-mutated and p53-wildtype/NSMP early-stage endometrial cancer (EC)—RAINBO BLUE and TAPER.[J]. J Clin Oncol, 2023, 41(16-Sup):1. DOI:10.1200/JCO.2023.41.16_suppl.TPS5632.
[40]
Slomovitz B, Cibula D, Gultekin M, et al. TP016/#1442 Keynote-C93/GOG-3064/ENGOT-EN15:phase 3,randomized,open-label study of first-line pembrolizumab versus platinum-doublet chemotherapy in mismatch repair deficient advanced or recurrent endometrial carcinoma[J]. Int J Gynecol Cancer, 2022,32:A230. DOI:10.1136/ijgc-2022-igcs.525.
[41]
Li J. Clinical status and future prospects of neoadjuvant immunotherapy for localized mismatch repair-deficient cancers:a review[J]. Int J Surg, 2024, 110(9):5722-5732. DOI:10.1097/js9.0000000000001680.
[42]
Cercek A, Foote MB, Rousseau B, et al. Nonoperative Management of Mismatch Repair-Deficient Tumors[J]. N Engl J Med, 2025, 392(23):2297-2308. DOI:10.1056/NEJMoa2404512.
[43]
Jiang F, Mao M, Jiang S, et al. PD-1 and TIGIT coexpressing CD8+CD103+tissue-resident memory cells in endometrial cancer as potential targets for immunotherapy[J]. Int Immunopharmacol, 2024, 127:111381. DOI:10.1016/j.intimp.2023.111381.
[44]
Rojas C, Eskens F, Ghiringhelli F, et al. Vibostolimab coformulated with pembrolizumab (vibo/pembro) for previously treated advanced mismatch repair-deficient (dMMR) endometrial cancer:Results from cohort B1 of the phase 2 KEYVIBE-005 study[J]. J Clin Oncol, 2024, 42:5502-5502. DOI:10.1200/JCO.2024.42.16_suppl.5502.
[45]
Skok K, Maccio U, Martin SD, et al. Tumor-Infiltrating Lymphocytes in Breast and Female Genital Tract Cancers:Overlooked Potential and Unexplored Frontiers[J]. Cancer Med, 2025, 14(13):e71023. DOI:10.1002/cam4.71023.
[46]
Teng Q, Yuan Z, Mu Y, et al. Molecular subtyping of endometrial cancer via a simplified one-step NGS classifier,ARID1A and ZFHX4 mutations help further subclassify CNL/MSI-H patients [J]. Diagn Pathol, 2025, 20(1):52. DOI:10.1186/s13000-025-01652-z.

脚注

利益冲突 所有作者均声明不存在利益冲突

基金

国家自然科学基金(82172601)

PDF(937 KB)

Accesses

Citation

Detail

段落导航
相关文章

/