Donor-Derived <i>SF3B1</i>-Mutated Myelodysplastic Neoplasm/Syndrome.
We report a rare case of donor-derived <i>SF3B1</i>-mutated myelodysplastic syndrome (MDS) arising in a 45-year-old woman following haploidentical allogeneic hematopoietic stem cell transplantation (allo-HSCT) for acute myeloid leukemia. Initial remission was achieved post-induction, and transplantation resulted in full donor chimerism. However, routine post-transplant surveillance revealed a novel <i>SF3B1</i> K666N mutation, evolving to overt MDS with ring sideroblasts and multilineage dysplasia. Persistent 100% donor chimerism confirmed the donor-derived nature of the neoplasm. The patient's course was complicated by severe graft-versus-host disease, opportunistic infections, and ultimately death. This case highlights the diagnostic challenges and clinical implications of donor-derived MDS, particularly involving <i>SF3B1</i> mutations, which are typically associated with favorable prognosis but remain poorly characterized in post-transplant settings.
Authors
- L. Jeffrey Medeiros (ORCID: https://orcid.org/0000-0001-6577-8006)
- Sanam Loghavi (ORCID: https://orcid.org/0000-0001-8980-3202)
- Jie Xu (ORCID: https://orcid.org/0000-0002-5960-9174)
- Gautam Borthakur
- Amanda Olson (ORCID: https://orcid.org/0000-0002-1669-0355)
- Ajit Ghosh (ORCID: https://orcid.org/0000-0001-9045-3916)
Institutions
- The University of Texas MD Anderson Cancer Center (US)
Publication Details
- Journal
- PubMed
- Published
- 2025-05-01
- Primary Topic
- Acute Myeloid Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00