Adenomyosis and endometriosis: common features
R.I. GABIDULLINA1, F.F. MINNULLINA2, T.N. SHIGABUTDINOVA3, D.I. AKHMETOVA1, A.SH. ZARIPOVA1, S.I. KHARITONOVA1
1Kazan State Medical University, Kazan
2Kazan (Volga) Federal University, Kazan
3City Clinical Hospital No. 7, Kazan
Contact details:
Gabidullina R.I. — MD, Professor of the Department of Obstetrics and Gynecology named after Prof. V.S. Gruzdev
Address: 49 Butlerov St., Kazan, Russian Federation, 420012, tel.: +7-917-28-99-310, e-mail: ru.gabidullina@yandex.ru
The purpose — to summarize the results of molecular genetic studies of adenomyosis and endometriosis.
Material and methods. Review of publications based on search results in the electronic resources PubMed, Elibrary, EMBASE and Google Scholar.
Results. Marked differences between endometriosis and adenomyosis in pathogenesis, lesion localisation and clinical features have led to the recognition of adenomyosis as a separate clinical entity. In the new International Classification of Diseases 11th Revision, adenomyosis was removed from the section «Endometriosis» (GA10) and presented as a separate disease «Adenomyosis». Identical KRAS mutations in epithelial cells in endometriosis, adenomyosis and combined endometriosis suggest that adenomyosis and endometriosis are oligoclonal lesions arising from populations of cells of the basal layer of the endometrium carrying a specific driver mutation. Medication strategies that block ovarian steroidogenesis, as well as local estrogen synthesis, are a long-term treatment option for these chronic diseases.
Conclusion. The results of molecular genetic studies indicate that endometriosis and adenomyosis are related conditions with a common molecular etiology.
Key words: endometriosis, adenomyosis, molecular genetic studies.
REFERENCES
- Yarmolinskaya M.I., Shalina M.A., Nagorneva S.V. Adenomioz: sovremennye podkhody k klassifikatsii. Zhurnal akusherstva i zhenskikh bolezney, 2023, vol. 72, no. 1, pp. 97–108 (in Russ.). DOI: 10.17816/JOWD121307
- Han L., Liu Y., Lao K., Jiang J., Zhang C., Wang Y. Individualized conservative therapeutic strategies for adenomyosis with the aim of preserving fertility. Front Med (Lausanne), 2023, vol. 10, 1133042. DOI: 10.3389/fmed.2023.1133042
- Davydov A.I., Pashkov V.M., Shakhlamova M.N. Adenomyosis: a new look at an old problem. Voprosy ginekologii, akusherstva i perinatologii, 2016, vol. 15, no. 2, pp. 59–66 (in Russ.). DOI: 10.20953/1726-1678-2016-2-59-66
- Inoue S., Hirota Y., Ueno T. et al. Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutations. Nat Commun, 2019, vol. 10 (1), p. 5785 DOI: 10.1038/s41467-019-13708-y
- Mezhdunarodnaya statisticheskaya klassifikatsiya bolezney i problem, svyazannykh so zdorov’em. Odinnadtsatyy peresmotr (MKB-11) [International Statistical Classification of Diseases and Related Health Problems. Eleventh revision (ICD-11)], available at: icd.who.int/browse11/l-m/ru/
- Camboni A., Marbaix E. Ectopic Endometrium: The Pathologist’s Perspective. Int J Mol Sci, 2021, vol. 22 (20), p. 10974. DOI: 10.3390/ijms222010974
- Chapron C., Marcellin L., Borghese B., Santulli P. Rethinking mechanisms, diagnosis and management of endometriosis. Nat. Rev. Endocrinol, 2019, vol. 15, pp. 666–682. DOI: 10.1038/s41574-019-0245-z
- Moldassarina R.S. Modern view on the diagnostics and treatment of adenomyosis. Arch Gynecol Obstet, 2023, vol. 308 (1), pp. 171–181. DOI: 10.1007/s00404-023-06982-1
- Bulun S.E., Yildiz S., Adli M. et al. Endometriosis and adenomyosis: shared pathophysiology. Fertil Steril, 2023, vol. 119 (5), pp. 746–750. DOI: 10.1016/j.fertnstert.2023.03.006
- Imperiale L., Nisolle M., Noël J-C., Fastrez M. Three Types of Endometriosis: Pathogenesis, Diagnosis and Treatment. State of the Art J Clin Med, 2023, vol. 12 (3), p. 994. DOI: 10.3390/jcm12030994
- Kobayashi H. Endometrial Inflammation and Impaired Spontaneous Decidualization: Insights into the Pathogenesis of Adenomyosis. Int J Environ Res Public Health, 2023, vol. 20 (4), p. 3762. DOI: 10.3390/ijerph20043762
- Anglesio M.S., Papadopoulos N., Ayhan A. et al. Cancer-Associated Mutations in Endometriosis without Cancer. N. Engl. J. Med, 2017, vol. 376, pp. 1835–1848. DOI: 10.1056/NEJMoa1614814
- Suda K., Nakaoka H., Yoshihara K. et al. Clonal expansion and diversification of cancer-associated mutations in endometriosis and normal endometrium. Cell Rep, 2018, vol. 24, pp. 1777–1789. DOI: 10.1016/j.celrep.2018.07.037
- Moore L., Leongamornlert D., Coorens T.H.H. et al. The mutational landscape of normal human endometrial epithelium. Nature, 2020, vol. 580, pp. 640–646. DOI: 10.1038/s41586-020-2214-z
- Liu Z., Sun Z., Liu H., Niu W. et al. Single-cell transcriptomic analysis of eutopic endometrium and ectopic lesions of adenomyosis. Cell Biosci, 2021, vol. 11, p. 51. DOI: 10.1186/s13578-021-00562-z
- Bulun S.E., Yildiz S., Adli M., Wei J.J. Adenomyosis pathogenesis: Insights from next-generation sequencing. Hum. Reprod. Update, 2021. DOI: 10.1093/humupd/dmab017
- Praetorius T.H., Leonova A., Lac V. et al. Molecular analysis suggests oligoclonality and metastasis of endometriosis lesions across anatomically defined subtypes. Fertil Steril, 2022, vol. 118, pp. 524–534.
- Benagiano G., Brosens I., Habiba M. Structural and molecular features of the endomyometrium in endometriosis and adenomyosis. Hum. Reprod. Update, 2014, vol. 20, pp. 386–402. DOI: 10.1093/humupd/dmt052
- Chapron C., Tosti C., Marcellin L. et al. Relationship between the magnetic resonance imaging appearance of adenomyosis and endometriosis phenotypes. Hum. Reprod, 2017, vol. 32, pp. 1393–1401. DOI: 10.1093/humrep/dex088
- Donnez J., Dolmans M.M., Fellah L. What if deep endometriotic nodules and uterine adenomyosis were actually two forms of the same disease? Fertil. Steril, 2019, vol. 111, pp. 454–456. DOI: 10.1016/j.fertnstert.2018.12.018
- Vannuccini S., Clemenza S., Rossi M., Petraglia F. Hormonal treatments for endometriosis: The endocrine background. Rev Endocr Metab Disord, 2022, vol. 23 (3), pp. 333–355. DOI: 10.1007/s11154-021-09666-w


