RRP

The RUNX1 Research Program (RRP) was founded in early 2016, they are a research and advocacy venture committed to funding world-class, innovative and cross-disciplinary cancer research to find a cure for those individuals born with a RUNX1 mutation. They have made it their goal to support, inform, educate and connect patients and healthcare providers in the RUNX1 Community.

RRP is focused on supporting patients with RUNX1 Familial Platelet Disorder (RUNX1-FPD) and empowering our patient community. Their mission is to improve the quality of life and prevent cancer in patients with RUNX1-FPD by promoting awareness and funding world-class collaborative research.

RUNX1-FPD with predisposition to hematologic malignancies is a hereditary disorder due to being born with an error, called a mutation, in the gene RUNX1 ¹. The mutation is passed down from generation to generation, and patients are at a heightened risk for developing blood cancers. Most experience low platelet counts (thrombocytopenia) and low-functioning platelets.

The link between germline RUNX1 mutations and blood cancer was first discovered in 1999.² Since then studies have estimated that the average lifetime risk of getting a blood cancer with mutations in the RUNX1 gene is close to 50%. It is important to note that there is a huge range in the incidence of cancer between families, with some being as low as 11% and others as high as 100%.¹ The predominant type of blood cancer RUNX1-FPD patients acquire is acute myeloid leukemia (AML), the second deadliest of all blood cancers.⁴ Other types of hematologic malignancies may also occur in patients, including myelodysplastic syndromes, T-cell acute lymphoblastic leukemia, and non-Hodgkin lymphoma.¹ Twenty-nine years is the average age of onset of a blood cancer for a person carrying a germline RUNX1 mutation,⁷ while the average age of onset in the general population is 68 years of age. Moreover, 50% of families with RUNX1-FPD have at least one or more children who progress to cancer.^3,5,6

For more information visit the RRP website.

References:

1. Godley, LA. Inherited predisposition to acute myeloid leukemia. Seminars in Hematology. 2014;51(4):306-321.
2. Song WJ, Sullivan MG, Legare RD, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999;23(2):166-175.
   Brown AL, Churpek JE, Malcovati L, et al. Recognition of familial myeloid neoplasia. Seminars in Hematol. 2017;54:60-68.
3. Surveillance, Epidemiology, and End Results (SEER) Program (www.seer.cancer.gov) SEER*Stat Database: Mortality – All COD, Aggregated with State, Total U.S. (1969-2015), National Cancer Institute, DCCPS, Surveillance Research Program, released December 2017. Underlying mortality data provided by NCHS (www.cdc.gov/nchs).
4. Owen CJ. Toze CL, Koochin A, et al. Five new pedigrees with inherited RUNX1mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood. 2008;112(12):4636-45.
5. Bannon SA, DiNardo CD. Hereditary predispositions to myelodysplastic syndrome. Int J Mol Sci. 2016;17(6).
6. Brown AL, Hahn CN, Scott HS. Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA). Blood. 2020;136(1):24-35.