Hematology · 2 h ago
Spanish study identifies germline predisposition in donor-derived blood cancers
A nationwide study across 24 Spanish transplant centers identified 39 donor cell-derived hematologic neoplasms (DDHNs). Among 8,465 allogeneic stem cell transplants performed in 2013–2022, prevalence was 0.28%; molecular findings implicated inherited predisposition, particularly in cases after related-donor transplantation.
- DDHN prevalence was 0.28% among 8,465 transplants.
- Cases were more frequent after related-donor transplantation.
- Germline variants were identified in 10 molecularly characterized cases.
- Authors support germline evaluation and related-donor cascade screening.
Researchers at 24 Spanish transplantation centers reviewed allogeneic hematopoietic stem cell transplant cohorts and required cytogenetic or molecular confirmation of donor origin to diagnose DDHN. They identified 39 cases diagnosed from 2007 to 2025. Among 8,465 transplants performed between 2013 and 2022, prevalence was 0.28%, and was higher after related-donor than unrelated-donor transplantation (0.41% vs 0.06%; p=0.0026). Median time from transplant to diagnosis was 56 months.
Most DDHNs were myeloid neoplasms: myelodysplastic neoplasms accounted for 51% and acute myeloid leukemia for 36%. Molecular characterization was available for 33 cases. Pathogenic or likely pathogenic germline variants were found in 10, involving DDX41 (7 cases), CEBPA (2) and CHEK2 (1); all occurred after related-donor transplantation. DDX41-associated cases showed recurrent somatic hits and low genomic complexity. Donor-derived clonal hematopoiesis was confirmed in one myeloid case, involving U2AF1.
The authors identify inherited germline predisposition as a potential major mechanism, particularly in related-donor transplants, and support germline evaluation at diagnosis of the original recipient disease before transplantation, followed by targeted screening of candidate related donors. The findings are from a retrospective cohort review and do not establish that screening prevents DDHN; the supplied abstract does not provide further details on methods or limitations.
In practice
For patients being evaluated for allogeneic hematopoietic stem cell transplantation, the study supports considering germline evaluation at diagnosis of the recipient’s original disease and targeted cascade screening of candidate related donors. In this Spanish multicenter cohort, DDHN prevalence was 0.28% and was higher after related- than unrelated-donor transplantation; germline predisposition variants were identified in 10 cases, all following related-donor transplantation. These retrospective findings indicate an association and do not establish that screening prevents DDHN or define a screening protocol.
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Blood: Molecular Underpinnings and Prevalence of Donor Cell-Derived Hematologic Neoplasms among Spanish Transplantation Centers ↗This is an automated AI-condensed summary that has not yet been reviewed by an editor. Always consult the full item at the original source.