Understanding Your Options

Deciding whether and when to pursue a preemptive stem cell transplant is a highly personal and often complex decision. Unlike stem cell transplantation performed to treat a blood cancer, a preemptive transplant is considered before blood cancer develops, requiring patients and families to weigh potential future benefits against the immediate risks and impact of transplantation.

There is no single "right" answer for every individual. The decision depends on many factors, including medical considerations, personal values, goals, and tolerance for uncertainty.

This information is designed to help you understand the key considerations and prepare for conversations with your healthcare team as part of a shared decision-making process.

Your options:

You may be considering one of two main approaches:

• Move forward with a preemptive stem cell transplant
• Continue close monitoring without transplant at this time

This reflection tool was created specifically for individuals with RUNX1-FPD who are considering these options.

  • RUNX1-FPD leukemia risk and natural history

    • Brown AL, Hahn CN, Carmichael CL, et al. Expanded phenotypic and genetic heterogeneity in the clinical spectrum of familial platelet disorder with associated myeloid malignancy. Blood.

    • Cunningham L, Merguerian M, Calvo KR, et al. Natural history of familial platelet disorder with associated myeloid malignancy. Blood. 2023;142(25):2146-2158.

    • Ernst MPT, Versluis J, Valk PJM, et al. Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency. Hemasphere. 2025;9(1):e70057.

    • Sacco KA, Laky K, Li MJ, et al. Germline RUNX1 deficiency and risk of familial myeloid neoplasia. Seminars in Hematology. 2017;54(2):60-68.

    • Additional studies describing phenotype variability and genetic risk in RUNX1-associated malignancies (Blood Advances, J Clin Invest).

    (Refs 12, 13, 17–20 from manuscript)

    Clonal evolution and somatic mutation risk

    • Liu J, Tran D, Xue L, et al. Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy. Nature Genetics. 2025.

    • Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. New England Journal of Medicine. 2014;371:2488-2498.

    • Genovese G, Kahler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. New England Journal of Medicine. 2014;371:2477-2487.

    (Refs 7, 28, 29 from manuscript)

    Outcomes and effectiveness of hematopoietic stem cell transplantation

    • Penack O, Peczynski C, Mohty M, et al. Improvements in transplant-related mortality after allogeneic stem cell transplantation. Blood Advances. 2020;4(24):6283-6290.

    • Mateos MK, O’Brien TA, Oswald C, et al. Transplant-related mortality following allogeneic hematopoietic stem cell transplantation for pediatric leukemia: a 25-year review. Pediatric Blood & Cancer. 2013;60(9):1520-1527.

    • Spellman SR, Xu K, Oloyede T, et al. Trends and outcomes in allogeneic hematopoietic cell transplantation.

    • Additional transplant outcome research including complications and survival trends (Frontiers in Pediatrics, Journal of Clinical Oncology, Biology of Blood and Marrow Transplantation, Blood Advances).

    (Refs 49–54 from manuscript)

    Transplant complications and long-term risks

    • EBMT Chronic Malignancy Working Party. Outcomes of allogeneic stem cell transplant in lower-risk myelodysplastic syndrome. Bone Marrow Transplantation. 2017;52(2):209-215.

    • Kanda Y, et al. Infectious complications after allogeneic hematopoietic stem cell transplantation. Journal of Infection and Chemotherapy. 2016;22(8):505-514.

    • Mata JR, Zahurak M, Rosen N, DeZern AE, Jones RJ, Ambinder AJ. Graft failure incidence, risk factors, and outcomes in non-myeloablative allogeneic transplantation. Transplantation and Cellular Therapy. 2024;30(6):588-596.

    (Refs 61, 72, 79 from manuscript)

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