Tumors of female reproductive system

Опухоли женской репродуктивной системы

1994-40981999-8627

Publishing House ABV Press

1415

10.17650/1994-4098-2025-21-3-121-130

GYNECOLOGY. ORIGINAL REPORTS

ГИНЕКОЛОГИЯ. ОРИГИНАЛЬНЫЕ СТАТЬИ

Molecular stratification or clinical necessity? The role of dMMR status in endometrial cancer

Молекулярная стратификация или клиническая необходимость? Роль dMMR-статуса при раке эндометрия

https://orcid.org/0000-0002-1195-4008

Vtorushin

S. V.

Вторушин

С. В.

Russian Federation

5 Kooperativnyy Pereulok, Tomsk 634009

634009 Томск, Кооперативный переулок, 5

https://orcid.org/0000-0003-2061-8417

Tashireva

L. A.

Таширева

Л. А.

Russian Federation

Ljubov Aleksandrovna Tashireva

5 Kooperativnyy Pereulok, Tomsk 634009

Любовь Александровна Таширева

634009 Томск, Кооперативный переулок, 5

lkleptsova@mail.ru

Research Institute of Oncology, Tomsk National Research Medical Center, Russian Academy of SciencesНаучно-исследовательский институт онкологии ФГБНУ «Томский национальный исследовательский медицинский центр Российской академии наук»

21112025

213

1211302111202521112025

https://ojrs.abvpress.ru/ojrs/article/view/1415

Endometrial cancer (EC) is one of the most common malignant tumors of the female reproductive system. Traditional clinicopathological factors do not always adequately reflect tumor biology, making molecular stratification increasingly important. A key element of this approach is the assessment of mismatch repair deficiency (dMMR) and microsatellite instability (MSI).

Aim of this work is to summarize current evidence on the clinical value of dMMR testing in EC and to define when and in whom it should be performed.

dMMR / MSI tumors account for approximately 20–30 % of EC cases. Testing provides several critical benefits: 1) identification of a distinct molecular subtype with characteristic biological behavior and intermediate prognosis; 2) early diagnosis of Lynch syndrome, enabling timely preventive strategies for patients and their relatives; 3) guidance in therapeutic decision-making, since dMMR / MSI tumors are highly sensitive to PD-1 inhibitors. Current international guidelines recommend that all patients with newly diagnosed EC undergo dMMR testing, regardless of age, family history, or histological subtype. This universal approach improves risk stratification, allows identification of hereditary cancer syndromes, and ensures access to effective immunotherapy in recurrent or metastatic settings

Рак эндометрия (РЭ) является одной из наиболее распространенных злокачественных опухолей женской репродуктивной системы. Традиционные клинико-морфологические факторы не всегда позволяют адекватно оценить прогноз, что делает актуальной молекулярную стратификацию заболевания. Ключевую роль в этом процессе играет определение дефицита системы репарации неспаренных оснований (mismatch repair deficiency, dMMR) и связанной с ним микросателлитной нестабильности (microsatellite instability, MSI).

Цель работы – обобщить современные данные о значении dMMR-статуса при РЭ и определить, кому и когда показано проведение тестирования. dMMR / MSI опухоли составляют около 20–30 % случаев РЭ. Их выявление имеет несколько аспектов: во-первых, тестирование позволяет выделить молекулярный подтип опухоли с характерными биологическими свойствами и промежуточным прогнозом; во-вторых, скрининг на dMMR обеспечивает раннюю диагностику синдрома Линча, что имеет критическое значение для самой пациентки и ее родственников; в-третьих, определение dMMR необходимо для выбора терапии при рецидивирующем и метастатическом РЭ, поскольку именно эта группа опухолей высокочувствительна к лечению ингибиторами PD-1. современные рекомендации международных сообществ сходятся в том, что тестирование на dMMR должно проводиться у каждой пациентки с впервые диагностированным РЭ, независимо от возраста, семейного анамнеза и морфологического типа опухоли. Такой подход обеспечивает выявление наследственных форм заболевания, уточняет прогноз и открывает доступ к иммунотерапии.

endometrial cancermismatch repair deficiencymicrosatellite instabilityLynch syndromemolecular stratificationimmunotherapy

рак эндометриядефицит системы репарации неспаренных основаниймикросателлитная нестабильностьсиндром Линчамолекулярная стратификацияиммунотерапия

This publication has been prepared with the financial support of Eisai.

Данная публикация выпущена при финансовой поддержке компании «Эйсай».

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