Research

Tumors have traditionally been classified based on the tissue of origin and histological appearance. During the last decades, our knowledge on genetic changes in tumors has constantly increased and especially the introduction of next-generation sequencing technology has revolutionized the research on cancer genetics. Our lab focuses on identification of novel molecular alterations in tumors and on understanding the mechanistic details through which these changes promote tumorigenesis. We are particularly interested in common gynecological neoplasias –uterine leiomyomas, endometrial polyps and endometriotic lesions– and their possible transformation into malignant cancers. We utilize various omics approaches like exome and genome sequencing, genotyping, and expression profiling. The functional effects of the newly discovered driver genes will be analyzed by various in vitro experiments.

Uterine leiomyomas (myomas, fibroids) are one of the most common human tumors. They are considered clinically benign, but they can disturb the uterine function and have a major impact on women’s health and quality of life. Uterine leiomyosarcomas are rare but extremely aggressive cancers. They are considered the malignant counterpart of leiomyomas, but their etiology remains elusive. Our group is studying the molecular background of leiomyomas and leiomyosarcomas. We are interested in both inherited mutations that increase the risk for developing these tumors and somatic alterations that have been acquired during the lifetime. We are also interested if some leiomyomas can transform into leiomyosarcomas.

Endometrial polyps are benign tumors with a prevalence of approximately 10%. Their main symptom is abnormal uterine bleeding, and hysteroscopic tumor removal is the primary treatment option. A small fraction of endometrial polyps have been linked with malignancy, especially with endometrial cancer. Our objective is to reveal the molecular background of polyps and to identify the genetic changes contributing to their malignant transformation.   

Endometriosis refers to the presence of endometrial tissue outside its normal location, the uterine cavity. It is a common chronic disease affecting 5-10% of women at reproductive age. There is currently no cure for endometriosis. The severe pain symptoms and dissemination of the disease are difficult to control. Exact causes for endometriosis remain unknown, but the role of hereditary factors have been estimated as high as 50%. Our aim is to extend the knowledge on genetic factors contributing to endometriosis development.