It has long been known that, in addition to genetic factors, epigenetic effects fundamentally influence the functioning of the living organism. Although the genome of individual cells of the human body is almost identical, the access, transcription and expression of genetic information are influenced by epigenetic effects. The eukaryotic nuclear DNA is wrapped around histone octamers to form the nucleosome, the basic unit of the chromatin structure. The covalent modifications of the histone proteins cause epigenetic changes. Human conception, followed by the division and implantation of the fertilized egg into the maternal decidua, is a complex process that requires the coordinated functioning of embryological, immunological processes and anatomical structures. The steps of these processes are genetically determined and the coarse- and fine-tuning of these effects occurs at the epigenetic level by external effects such as hormones, toxins, changes in diet, infections, or cell differentiation. The most significant rearrangements occur in the embryonic period after the fertilization of the egg. In our paper, we review the literature to present the effects that influence the fine-tuning of genome function at the epigenetic level. Disturbances of these mechanisms are the basis of several pathologies that threaten conception, implantation and successful pregnancy, such as recurrent miscarriage, preeclampsia, fetal growth restriction or premature birth. In addition, epigenetic alterations acting during the period of plasticity of individual development can cause diseases that appear in the young, adult and even old age of the offspring, which can even be inherited through generations.

The genotype of our cells is almost the same for all cells in our body, but due to epigenetic effects, their phenotype can show significant differences. Epigenetics is a relatively new field of molecular biology that deals with the changes affecting the heritable phenotype, gene expression and gene activity in addition to the given genotype. The gene expression of immune and tumor cells is regulated by epigenetic processes. These processes can enhance the immune system evasion mechanisms of various tumor cells, while the results of other processes can actually help the immune system function. Our paper explores the epigenetic aspects of gynecological tumors through a thorough review of the Hungarian and international literature, with particular attention to the tumor processes of the cervix, uterus, ovary and breast. It also affects gestational tumors. It discusses the epigenetics of endometriosis, which does not belong to the group of classic tumor diseases, but in terms of its pathomechanism shows many similarities with other tumors. Finally, the paper discusses new findings in epigenetic medicine and therapy. Orv Hetil. 2025; 166(52): 2043–2054.

Pembrolizumab is a programmed cell death protein (PD-1) inhibitor, humanized antibody widely used in cancer immunotherapy. Choriocarcinoma is an aggressive type of gestational trophoblastic neoplasia. Its treatment is based on surgical removal of the tumorous tissue and systemic chemotherapy; however, in some chemoresistant cases, immunotherapy can also be a valid option. Here, we report the first successful programmed death inhibitor-based treatment of a patient diagnosed with stage IV, ultra-high-risk choriocarcinoma in Hungary.