Tumour genomics - Lauri Aaltonen

Uterine leiomyoma

Uterine leiomyomas are extremely common benign tumours that arise from the smooth muscle layer of the uterus. Although benign they can cause a variety of symptoms such as excessive bleeding and abdominal pain, and negatively affect fertility and pregnancy.

Recent work from our research group at the University of Helsinki has revealed that although uterine leiomyomas are widely regarded a single entity, there are at least four distinct subgroups of leiomyomas with characteristic genetic driver mutations.

Using patient samples collected in collaboration with clinicians at Danderyds Sjukhus, we are now further characterizing the features of the identified subgroups and exploring if and how the subtype specific features may affect the tumour’s sensitivity to drug treatment.

Colorectal cancer

Colorectal cancer is our long-term interest, and the group has contributed to several key discoveries along the way. Although a number of genetic variations (mutations) have been linked to colorectal cancer, we still do not know the full set of mutations that are necessary and together sufficient to cause this type of cancer. One of the aims with our research is to identify novel mutations/genetic aberrations that contribute to colorectal cancer and to explore how these contribute to tumourigenesis.