Неинвазивная диагностика рака эндометрия: ключевая роль метилирования ДНК

1. Свиридова Н.И., Ткаченко Л.В., Яхонтова М.А., Гриценко И.А., Максимов С.Н., Пурясева К.А. Гиперпластические процессы эндометрия: современные подходы к диагностике и лечению. Акушерство, гинекология и репродукция. 2024; 18(1): 83-95.
2. Chou A.J., Bing R.S., Ding D.C. Endometrial atypical hyperplasia and risk of endometrial cancer. Diagnostics. 2024; 14(22): 2471. https://dx.doi.org/10.3390/diagnostics14222471
3. Nees L.K., Heublein S., Steinmacher S., Juhasz-Böss I., Brucker S., Tempfer C.B. et al. Endometrial hyperplasia as a risk factor of endometrial cancer. Arch. Gynecol. Obstet. 2022; 306(2): 407-21. https://dx.doi.org/10.1007/s00404-021-06380-5
4. Hashemi M., Madani E.S., Ghahiri A., Tarrahi M.J., Rouholamin S. Assessment of long- and short-term outcomes of hysteroscopic polypectomy in patients with uterine polyps. Adv. Biomed. Res. 2024; 13: 57. https://dx.doi.org/10.4103/abr.abr_66_23
5. Porcaro F., Paolucci A., Porcaro P., Cardinale G., Romitelli A., Cozzolino D. et al. Minimally Invasive and emerging diagnostic approaches in endometrial cancer: epigenetic insights and the promise of DNA methylation. Diagnostics (Basel). 2024; 14(22): 2575. https://dx.doi.org/10.3390/diagnostics14222575
6. Bray F., Laversanne M., Sung H., Ferlay J., Siegel R.L., Soerjomataramet I. et al. Global cancer statistics 2022: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J. Clin. 2024; 74(3):229-63. https://dx.doi.org/10.3322/caac.21834
7. Каприн А.Д., Старинский В.В., Шахзадова А.О., ред. Состояние онкологической помощи населению России в 2023 году. М.: МНИОИ им. П.А. Герцена – филиал ФГБУ «НМИЦ радиологии» Минздрава России; 2024. 276с.
8. Бохман Я.В. Руководство по онкогинекологии. М.: Медицина; 1989. 325 с.
9. Xu T., Ding H., Chen J., Lei J., Zhao M., Ji B. et al. Research progress of DNA methylation in endometrial cancer. Biomolecules. 2022; 12(7): 938. https://dx.doi.org/10.3390/biom12070938
10. Shen Y., Tian Y., Ding J., Chen Z., Zhao R., Lu Y. et al. Unravelling the molecular landscape of endometrial cancer subtypes: insights from multiomics analysis. Int. J. Surg. 2024; 110(9): 5385-95. https://dx.doi.org/10.1097/JS9.0000000000001685
11. Cancer Genome Atlas Research Network; Weinstein J.N., Collisson E.A., Mills G.B., Shaw K.R., Ozenberger B.A., Ellrott K. et al. The Cancer Genome Atlas Pan-Cancer analysis project. Nat. Genet. 2013; 45(10): 1113-20. https://dx.doi.org/10.1038/ng.2764
12. Crosbie E.J., Kitson S.J., McAlpine J.N., Mukhopadhyay A., Powell M.E., Singh N. Endometrial cancer. Lancet. 2022; 399(10333): 1412-28. https://dx.doi.org/10.1016/S0140-6736(22)00323-3
13. Hu Z., Wu Z., Liu W., Ning Y., Liu J., Ding W. et al. Proteogenomic insights into early-onset endometrioid endometrial carcinoma: predictors for fertility-sparing therapy response. Nat. Genet. 2024; 56(4): 637-51. https://dx.doi.org/10.1038/s41588-024-01703-z
14. Ha H.I., Chang H.K., Park S.J., Lim J., Won Y.J., Lim M.C. The incidence and survival of cervical, ovarian, and endometrial cancer in Korea, 1999-2017: Korea Central Cancer Registry. Obstet. Gynecol. Sci. 2021; 64(5): 444-53. https://dx.doi.org/10.5468/ogs.21116
15. Shen Y., Yang W., Liu J., Zhang Y. Minimally invasive approaches for the early detection of endometrial cancer. Mol. Cancer. 2023; 22(1): 53. https://dx.doi.org/10.1186/s12943-023-01757-3.
16. Katagiri R., Iwasaki M., Abe S.K., Islam M.R., Rahman M.S., Saito E. et al. Reproductive factors and endometrial cancer risk among women. JAMA Netw. Open. 2023; 6(9): e2332296. https://dx.doi.org/10.1001/jamanetworkopen.2023.32296
17. Lu L., Luo J., Deng J., Huang C., Li C. Polycystic ovary syndrome is associated with a higher risk of premalignant and malignant endometrial polyps in premenopausal women: a retrospective study in a tertiary teaching hospital. BMC Womens Health. 2023; 23(1): 127. https://dx.doi.org/10.1186/s12905-023-02269-4
18. Ghanavati M., Khorshidi Y., Shadnoush M., Akbari M.E., Ardehali S.H., Chavarri-Guerra Y. et al. Tamoxifen use and risk of endometrial cancer in breast cancer patients: A systematic review and dose-response meta-analysis. Cancer Rep. (Hoboken). 2023; 6(4): e1806. https://dx.doi.org/10.1002/cnr2.1806
19. Park B. Associations between obesity, metabolic syndrome, and endometrial cancer risk in East Asian women. J. Gynecol. Oncol. 2022; 33(4): e35. https://dx.doi.org/10.3802/jgo.2022.33.e35
20. Tohma Y.A., Onalan G., Esin S., Sahin H., Aysun D., Kuscu E. et al. Are there any predictors of endometrial premalignancy/malignancy within endometrial polyps in infertile patients? Gynecol. Obstet. Invest. 2019; 84(5): 512-8. https://dx.doi.org/10.1159/000501682
21. Gentry-Maharaj A., Karpinskyj C. Current and future approaches to screening for endometrial cancer. Best Pract. Res. Clin. Obstet. Gynaecol. 2020; 65: 79-97. https://dx.doi.org/10.1016/j.bpobgyn.2019.12.006
22. Zhao S., Chen L., Zang Y., Liu W., Liu S., Teng F. et al. Endometrial cancer in Lynch syndrome. Int. J. Cancer. 2022; 150(1): 7-17. https://dx.doi.org/10.1002/ijc.33763
23. Sud A., Torr B., Jones M.E., Broggio J., Scott S., Loveday C. et al. Effect of delays in the 2-week-wait cancer referral pathway during the COVID-19 pandemic on cancer survival in the UK: a modelling study. Lancet Oncol. 2020; 21(8):1035-44. https://dx.doi.org/10.1016/S1470-2045(20)30392-2
24. Long B., Clarke M.A., Morillo A.D.M., Wentzensen N., Bakkum-Gamez J.N. Ultrasound detection of endometrial cancer in women with postmenopausal bleeding: Systematic review and meta-analysis. Gynecol. Oncol. 2020; 157(3): 624-33. https://dx.doi.org/10.1016/j.ygyno.2020.01.032
25. llah O., Adeeko D., Olaitan A., Gentry-Maharaj A. Racioethnic disparities in endometrial cancer outcomes. Diagnostics (Basel). 2024; 14(4): 417. https://dx.doi.org/10.3390/diagnostics14040417
26. Министерство здравоохранения Российской Федерации. Клинические рекомендации. Рак тела матки и саркомы матки. 2024.
27. Liang W.W., Lu R.J., Jayasinghe R.G., Foltz S.M., Porta-Pardo E., Geffen Y. et al.; Clinical Proteomic Tumor Analysis Consortium. Integrative multi-omic cancer profiling reveals DNA methylation patterns associated with therapeutic vulnerability and cell-of-origin. Cancer Cell. 2023; 41(9): 1567-1585.e7. https://dx.doi.org/10.1016/j.ccell.2023.07.013
28. Inoue F., Sone K., Toyohara Y., Takahashi Y., Kukita A., Hara A. et al. Targeting epigenetic regulators for endometrial cancer therapy: its molecular biology and potential clinical applications. Int. J. Mol. Sci. 2021; 22(5): 2305. https://dx.doi.org/10.3390/ijms22052305
29. Evans I., Reisel D., Jones A., Bajrami A., Nijjar S., Solangon S.A. et al. Performance of the WID-qEC test versus sonography to detect uterine cancers in women with abnormal uterine bleeding (EPI-SURE): a prospective, consecutive observational cohort study in the UK. Lancet Oncol. 2023; 24(12): 1375-86. https://dx.doi.org/10.1016/S1470-2045(23)00466-7
30. Wever B.M., van den Helder R., van Splunter A.P., van Gent M.D.J.M., Kasius J.C., Trum J.W. et al. DNA methylation testing for endometrial cancer detection in urine, cervicovaginal self-samples and cervical scrapes. Int. J. Cancer. 2023; 153(2): 341-51. https://dx.doi.org/10.1002/ijc.34504
31. Herzog C., Marín F., Jones A., Evans I., Reisel D., Redl E. et al. A simple cervicovaginal epigenetic test for screening and rapid triage of women with suspected endometrial cancer: validation in several cohort and case/control sets. J. Clin. Oncol. 2022; 40(33): 3828-38. https://dx.doi.org/10.1200/JCO.22.00266
32. Schreiberhuber L. Herzog C., Vavourakis C.D., Redl E., Kastner C., Jones A. et al. The WID-qEC test: Performance in a hospital-based cohort and feasibility to detect endometrial and cervical cancers. Int. J. Cancer. 2023; 152(6): 1269-74. https://dx.doi.org/10.1002/ijc.34275
33. Illah O., Scott M., Redl E., Barrett J.E., Schreiberhuber L., Herzog C. et al. High performance of the DNA methylation-based WID-qEC test for detecting uterine cancers independent of sampling modalities. Int. J. Cancer. 2024; 155(5): 800-6. https://dx.doi.org/10.1002/ijc.35000
34. Ken-Amoah S., Redl E., Domson B.K.S., Barrett J.E., Schreiberhuber L., Herzog C. et al. Performance of the WID-qEC test to detect uterine cancers in black women with abnormal uterine bleeding: A prospective observational cohort study in Ghana. Int. J. Cancer. 2025; 156(5): 1055-64. https://dx.doi.org/10.1002/ijc.35260
35. Barrett J.E., Jones A., Evans I., Herzog C., Reisel D., Olaitan A. et al. The WID-EC test for the detection and risk prediction of endometrial cancer. Int. J. Cancer. 2023; 152(9): 1977-88. https://dx.doi.org/10.1002/ijc.34406
36. Wen K.С., Huang R.L., Chen L.Y., Wu T.I., Lu C.H., Chu T.Y. et al. Endometrial cancer detection using a cervical DNA methylation assay (MPap) in women with abnormal uterine bleeding: A multicenter hospital-based validation study. Cancers (Basel). 2022; 14(17): 4343. https://dx.doi.org/10.3390/cancers14174343
37. Huang R.L., Su P.H., Liao Y.P., Wu T.I., Hsu Y.T., Lin W.Y. et al. Integrated epigenomics analysis reveals a DNA methylation panel for endometrial cancer detection using cervical scrapings. Clin. Cancer Res. 2017; 23(1): 263-72. https://dx.doi.org/10.1158/1078-0432.CCR-16-0863
38. Bakkum-Gamez J.N., Sherman M.E., Slettedahl S.W., Mahoney D.W., Lemens M.A., Laughlin-Tommaso S.K. et al. Detection of endometrial cancer using tampon-based collection and methylated DNA markers. Gynecol. Oncol. 2023; 174: 11-20. https://dx.doi.org/10.1016/j.ygyno.2023.04.014
39. Li M., Xia Z., Wang R., Xi M., Hou M. Unveiling DNA methylation: early diagnosis, risk assessment, and therapy for endometrial cancer. Front. Oncol. 2025; 14: 1455255. https://dx.doi.org/10.3389/fonc.2024.1455255
40. Pomerantz T., Brooks R. Circulating tumor DNA (ctDNA) and its role in gynecologic malignancies. Curr. Treat. Options Oncol. 2024; 25(4): 510-22. https://dx.doi.org/10.1007/s11864-024-01180-w
41. Muinelo-Romay L., Casas-Arozamena C., Abal M. Liquid biopsy in endometrial cancer: new opportunities for personalized oncology. Int. J. Mol. Sci. 2018; 19(8): 2311. https://dx.doi.org/10.3390/ijms19082311
42. Beinse G., Borghese B., Métairie M., Just P.A., Poulet G., Garinet S. et al. Highly specific droplet-digital PCR detection of universally methylated circulating tumor DNA in endometrial carcinoma. Clin. Chem. 2022; 68(6): 782-93. https://dx.doi.org/10.1093/clinchem/hvac020
43. van den Helder R., Wever B.M.M., van Trommel N.E., van Splunter A.P., Mom C.H., Kasius J.C. et al. Non-invasive detection of endometrial cancer by DNA methylation analysis in urine. Clin. Epigenetics. 2020; 12(1): 165. https://dx.doi.org/10.1186/s13148-020-00958-7
44. Schuhn A., Tobar T.W., Gahlawat A.W., Hauke J., Baumann L., Okun J.G. et al. Potential of blood-based biomarker approaches in endometrium and breast cancer: a case-control comparison study. Arch. Gynecol. Obstet. 2022; 306(5): 1623-32. https://dx.doi.org/10.1007/s00404-022-06482-8

Поступила 29.04.2025

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