Hereditary hematological malignancies – Bianca Tesi team

The team focuses on hereditary cancer syndromes, particularly those predisposing to hematological malignancies, through clinical, genetics and epidemiological studies.

A picture of two women in an archipelago setting. The women look into the camera and smile.

The team is part of Eva Hellström Lindberg's research group at HERM.

About our research

The major focus of the team is on genetic predisposition to hematological malignancies. While most hematological malignancies are sporadic, a subgroup of patients will develop blood cancers such as myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) due to an inborn genetic predisposition. Today, such patients are recognized in the clinic with the help of guidelines based on family history for hematological malignancies, specific symptoms, and/or findings on routine genetic investigations performed on bone marrow samples. However, we know that these guidelines do not identify all patients and that the currently known genes predisposing to hematological malignancies only explain a proportion of patients. Also, more knowledge is needed regarding the molecular mechanisms leading to cancer development in susceptible individuals to develop effective preventive measures.

Our team aims to generate clinically useful knowledge that can improve the management of these patients and their family members. Currently, we are employing genetic studies on a large population-based cohort of patients with MDS as well as genetic studies of selected patients and families suspected to harbor novel predisposing variants. We are planning a register-based study to understand real-word patterns of cancer family history among patients with myeloid malignancies and understand their impact on disease presentation and outcome.

Key collaborators are Professor Eva Hellström Lindberg (KI), Dr. Panagiotis Baliakas (UU), Dr Elisabeth Ejerblad (UU).