Get the Facts

Deciding whether to pursue a stem cell transplant is deeply personal and often complex. You may feel ready to weigh the risks and benefits yourself, or you may prefer to lean on your medical team’s recommendation. This information is here to help you understand the considerations involved, so you can have a thoughtful, informed conversation with your doctor about what feels right for you.

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 decision aid was created specifically for individuals with RUNX1-FPD who are considering these options.

Frequently Asked Questions

  • RUNX1-FPD increases the risk of developing blood cancers such as myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).

    Research suggests that about 35–50% of people with RUNX1-FPD may develop a hematologic cancer during their lifetime.

    However, the timing and progression can vary widely. Some people develop additional genetic changes in blood-forming cells over time. These changes, sometimes called clonal hematopoiesis, may increase the likelihood of leukemia.

    Because doctors cannot yet predict exactly who will develop cancer or when, regular monitoring is an important part of care.

  • A hematopoietic stem cell transplant (HSCT) replaces bone marrow cells carrying the RUNX1 variant with healthy donor stem cells.

    Potential benefits may include:

    • Reducing the risk of developing leukemia or related blood cancers

    • Replacing abnormal blood-forming cells with healthy donor cells

    • Eliminating pre-leukemic cell clones that may increase cancer risk

    • Potentially correcting platelet abnormalities associated with RUNX1-FPD

    For some individuals, transplant may offer the possibility of a long-term cure of the underlying condition. However, the best timing for transplant is still being studied.

  • Stem cell transplantation is a serious medical procedure that carries potential risks.

    Possible complications include:

    • Transplant-related mortality

    • Graft-versus-host disease (GVHD), where donor immune cells attack the body

    • Serious infections while the immune system recovers

    • Graft failure, where the new stem cells do not grow properly

    • Long-term health complications

    These risks vary depending on many factors such as age, overall health, donor match, and transplant approach.

    Because of these uncertainties, deciding whether and when to pursue transplant is often a shared decision between patients, families, and clinicians.

  • 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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