Preemptive hematopoietic stem cell transplantation in RUNX1 familial platelet disorder: a shared decision-making framework.
Timothy S Olson, Katrin Ericson, Joseph H Antin et al.
✦ AI-curated · Sources linked
Case in brief
An individual with RUNX1 familial platelet disorder (RUNX1-FPD) and a family history of hematologic malignancy underwent allogeneic hematopoietic stem cell transplantation (HSCT) before overt malignancy developed. The report presents a shared decision-making framework for weighing preemptive HSCT against continued surveillance. It considers germline and somatic variants, evolving clonal changes, family history, early morphologic or hematologic findings, bleeding-related quality of life, and donor availability, alongside transplant risks, uncertainties, and ethical considerations. The abstract does not report the individual’s post-transplant outcome.
What made this case unusual
The case centers on preemptive HSCT for RUNX1-FPD before overt hematologic malignancy, a decision for which the abstract notes there is no consensus, and uses it to introduce a patient-centered framework for weighing transplantation against surveillance.
Diagnostic / clinical pearl
In RUNX1-FPD, decisions about preemptive HSCT should integrate evolving clinical and clonal findings, family history, bleeding-related quality of life, and donor availability, while explicitly considering transplant risks and uncertainties.
Why it matters
The framework offers a structured way for patients, families, and multidisciplinary teams to navigate an individualized decision where evidence and consensus remain limited.