#IDIBELLseminars: Uterine leiomyoma as a model for neoplasia

Uterine leiomyomas (ULs) are benign yet neoplastic tumors of the uterine smooth muscle wall. They are remarkably frequent, as up to 70% of all women develop these lesions during lifetime. About 20% of women develop symptoms, such as abnormal menstrual bleeding, pelvic pain and infertility. While ULs display little malignant potential, research on these tumors has been extremely fruitful not only in allowing molecular stratification of ULs into different subclasses with mutually exclusive driver genes and characteristic clinicopathological features, but also by contributing to our understanding on mechanisms of neoplasia in general. This talk will review some lessons learnt through Helsinki myoma study, a research program that has been running for 25 years.

Hosted by Barbara Rivera – Hereditary Cancer group

Lauri A. Aaltonen received his MD degree 1989 at the University of Helsinki. The PhD thesis work “Molecular Background of Hereditary Nonpolyposis Colorectal Cancer” was approved 1994, Alfred Knudson as the official opponent in the thesis defense. Subsequent works include identification of genes predisposing to Peutz-Jeghers syndrome, juvenile polyposis, hereditary leiomyomatosis and renal cell cancer, and pituitary adenoma predisposition. Of course, many collaborators were also involved in these efforts. Work on low-penetrance colorectal cancer susceptibility with a particular focus on understanding the MYC oncogene regulatory region involved in many different cancer types followed. More recently, the Aaltonen group has identified predisposition genes for lymphoma, cardiovascular abnormalities as well as a new intellectual disability syndrome.
Current main foci are work on regulatory genomics of colorectal cancer as well as uterine leiomyomas. Aaltonen has received two consecutive ERC advanced grants, 2011-2016 and 2016-2021, and currently serves as the director of Academy of Finland’s Centre of Excellence in Tumor Genetics Research.