“Role of PHF6 mutations in germline RUNX1 deficiency associated hematopoietic disorders.”

Recent studies of the somatic mutation patterns associated with RUNX1 Familial Platelet Disorder (RUNX1-FPD) myelodysplastic syndromes (MDS) or acute myeloid leukemia (AML) have identified the acquisition of additional RUNX1, PHF6 and BCOR gene mutations.

This implicates these mutations as possible catalysts in cancer development as they are rarely present in pre-leukemic blood cell production, which suggests they may play a specific role in the development of leukemia. 

Dr. Avagyan is studying how mutant PHF6 protein paired with complete loss of RUNX1 protein work together to lead to leukemia. Knowledge gained from these mechanistic studies could lead to the discovery of new druggable targets. Her long-term goal is to help create preventative treatments that reduce the risk of blood cancer development in RUNX1-FPD patients.