OBJECTIVE

Study was to study the differential expression of genes in myomatous nodes and myometrium as a basis for further development of personalized approaches to diagnosis, prognosis and treatment of uterine fibroids.

MATERIAL AND METHODS

A total of 133 specimens were examined, including 48 specimens of the myometrium and 85 samples of leiomyomatous nodules obtained as a result of surgical intervention. The characteristic structural features of myometrial and leiomyomatous tissue were analyzed.

RESULTS

Somatic mutation MED12+ was identified in 42 samples, and mutation MED12− was identified in an additional 43 samples. In 19 patients, multiple leiomyomas were identified, while in nine patients, both types of leiomyomas (MED12+ and MED12−) were present. Based on an analysis of published research on the transcriptomics of uterine fibroids, a total of 18 genes were identified that showed significant differences in expression levels between the myometrium and the fibroids. Statistical analysis revealed significant differences in gene expression levels for 13 out of the 18 genes in groups of patients with either single or multiple fibroids, as well as depending on the presence or absence of the MED12 somatic mutation.

CONCLUSION

The data collected allow us to distinguish at least two molecular subtypes of uterine leiomyomas — associated and not associated with a specific somatic mutation in the second exon of the MED12 gene. Both single and multiple leiomyomas can exhibit these molecular subtypes, with the associated subtype occurring in association with a MED12 mutation. This study clearly demonstrates that specific gene expression patterns differ between these two subtypes. At this juncture, it has become evident that the MED12 gene mutation affects the activity of specific gene sets in the development of leiomyomas, thereby defining its molecular profile. It is plausible that different leiomyoma subtypes may exhibit distinct growth and recurrence potentials, which warrants further investigation.