"Investigating the Role of TNF Mediated Inflammation in Predisposition to FPD-HM."

RUNX1 familial platelet disorder (RUNX1-FPD) is a hereditary disorder characterized by low platelet counts and an increased risk of developing hematologic malignancies, particularly acute myeloid leukemia (AML). Although understanding of the biology of the RUNX1 protein is growing, there is an inadequate understanding of the clinical and genetic diversity of the clinical syndrome. RUNX1-FPD was previously considered to be a rare disease, but with the growing awareness of the disease among physicians and the use of next-generation sequencing, it is being recognized with increasing frequency.

Dr. Jordan-Bruno will work with RRP and other RUNX1 investigators to better characterize the longitudinal clinical history of the disease and to correlate clinical follow-up with molecular and biologic features from a patient biorepository. The biorepository will be established in collaboration with RRP at the University of Pennsylvania. Dr. Bruno and her team will collect samples both from patients seen at PennMedicine and from those who wish to participate by sending samples by mail. Samples will include both peripheral blood (PB) and bone marrow (BM) specimens. PB and BM will be processed to separate serum from cells. Mononuclear cell (MNC) fractions will be viably frozen. All samples will be de-identified but annotated for clinical information.

The team will then create a linked RedCap RUNX1-FPD database that will contain sample linking information and allow the tracking of clinical features of the disease over time including symptoms, platelet counts, development of hematologic malignancy, therapy for such malignancies and outcome of therapy. This database and sample biorepository will be linked with the sample repository and clinical database of the ongoing NCI RUNX1-FPD study. Samples will be provided to RUNX1 investigators after review by the SAB (to be formed).

The team anticipates that this biorepository will become an established resource for disease investigators. In addition, Dr. Jordan-Bruno will work with RRP to develop clinical practice guidelines, see patients with FPDMM in her clinical practice and develop skills in clinical research. Through these multiple approaches, Dr. Bruno will become an expert consultant for clinical and research studies in FPDMM.