Compare Options
Deciding whether to pursue a stem cell transplant is deeply personal and often complex. The table below is designed to support decision-making about a preemptive stem cell transplant, which is to have the procedure done before a blood cancer.. The considerations involved in a preemptive transplant are distinct from those for a transplant pursued after a cancer diagnosis, and this table reflects that context. If you have already received a cancer diagnosis, please speak directly with your medical team about your options.
| Getting a preemptive stem cell transplant | Active surveillance (no transplant now) | |
|---|---|---|
| What is the main goal of this option? | To replace bone marrow cells carrying the RUNX1 variant with healthy donor cells, with the goal of preventing leukemia or related blood cancers from developing. | To actively monitor blood counts, bone marrow, and genetic changes over time, and to consider transplant only if signs of progression appear. |
| What are the potential benefits? | May reduce or eliminate the risk of developing blood cancer associated with RUNX1-FPD. May also improve platelet abnormalities and bleeding symptoms, and may reduce the psychological burden of living with an elevated cancer risk, particularly for individuals with a strong family history of blood cancer. | Avoids the immediate risks and side effects of transplant. Preserves current health status while giving doctors time to monitor for meaningful changes. Also preserves fertility options and allows time for family planning. |
| What are the possible risks or downsides? | Transplant is a major medical procedure and may lead to serious complications, including infections, graft-versus-host disease (GVHD), graft failure, or other long-term health effects. Recovery can take months to years. Doctors cannot guarantee outcomes. | The underlying genetic condition remains. RUNX1-FPD is associated with a 35-50% lifetime risk of developing a blood cancer. Active surveillance does not reduce that risk; it monitors for it. Some people also experience significant anxiety related to ongoing uncertainty. |
| What does recovery or follow-up look like? | After transplant, close medical monitoring is required, including frequent visits, medications to prevent complications, and long-term follow-up. Most people can expect a gradual return to normal functioning over months to years. | Monitoring usually continues throughout life. Your care team may recommend regular blood counts and occasional bone marrow testing to watch for early signs of disease progression. |
| When might this option be considered? | When a person has a suitable donor, a strong family history of blood cancer, signs of disease progression, significant bleeding-related quality of life impacts, or other clinical factors the care team identifies as high-risk. | When disease risk appears stable, when no suitable donor is currently available, or when a person prefers to avoid transplant risks unless progression makes it clearly necessary. |
| What about donor availability? | A suitable donor is required for transplant. Because RUNX1-FPD is hereditary, family members often carry the same variant and cannot donate. Matched unrelated donors or other donor types are frequently used, and outcomes with these donors have improved significantly. Finding a donor takes time and is not guaranteed. | If no donor is currently available, active surveillance is typically the path forward while a donor search continues, if desired. Donor availability can change over time. |
| How certain are doctors about the outcome? | Transplant may prevent blood cancer, but carries real risks and long-term effects. There is currently no consensus on optimal timing or patient selection for pre-emptive transplant in RUNX1-FPD, and prospective outcome data are limited. | Surveillance avoids transplant risks now, but cannot prevent blood cancer if it develops. Doctors cannot yet predict with certainty who will or will not develop cancer, or when. |
| What factors might influence this decision? | May be considered if there are signs of disease progression, high-risk mutations, or a suitable donor. | May be chosen if disease risk appears stable or if the person prefers to avoid transplant risks unless clearly necessary. |
| What role do personal values play? | Some people prefer to act early to reduce cancer risk, even given the significant risks of transplant. For those with a strong family history of blood cancer, early intervention may feel important for peace of mind. | Others prefer to avoid a major procedure unless disease develops. Factors like fertility goals, family circumstances, and personal risk tolerance all play a role in this decision. |
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Clonal evolution and genetic progression to malignancy
The comparison of treatment options presented in this section is based on published research on RUNX1 familial platelet disorder (RUNX1-FPD), the risk of progression to myeloid malignancies, and outcomes associated with hematopoietic stem cell transplantation.
Liu J, Tran D, Xue L, et al. Germline genetic variation shapes clonal hematopoiesis 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 sequencing. New England Journal of Medicine. 2014;371:2477–2487.
(Refs 7, 28, 29 from the manuscript)
Outcomes of hematopoietic stem cell transplantation
Evidence on survival outcomes, transplant approaches, and long-term effectiveness of allogeneic hematopoietic stem cell transplantation.
Penack O, Peczynski C, Mohty M, et al. Changes in transplant-related mortality after allogeneic hematopoietic 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 leukemia. Pediatric Blood & Cancer. 2013;60(9):1520–1527.
Spellman SR, Xu K, Oloyede T, et al. Trends and outcomes in allogeneic hematopoietic cell transplantation.
(Refs 49–54 from the manuscript)
Transplant complications and long-term risks
Studies describing major risks associated with transplantation, including graft-versus-host disease (GVHD), infection, and graft failure.
EBMT Chronic Malignancy Working Party. Allogeneic stem cell transplantation outcomes in lower-risk myelodysplastic syndromes. Bone Marrow Transplantation. 2017;52(2):209–215.
Kanda Y, et al. Infectious complications following 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 after non-myeloablative allogeneic transplantation: incidence and outcomes. Transplantation and Cellular Therapy. 2024;30(6):588–596.
(Refs 61, 72, 79 from the manuscript)