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.

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PubMed
Published
2025-05-01
Primary Topic
Acute Myeloid Leukemia Research
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article

Donor-Derived SF3B1-Mutated Myelodysplastic Neoplasm/Syndrome.

L. Jeffrey Medeiros, Sanam Loghavi, Jie Xu, Gautam Borthakur et al.
PubMed
Acute Myeloid Leukemia Research
article

Donor-Derived SF3B1-Mutated Myelodysplastic Neoplasm/Syndrome.

L. Jeffrey Medeiros, Sanam Loghavi, Jie Xu, Gautam Borthakur, Amanda Olson, Ajit Ghosh
article en

Abstract

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.

PubMedVol. 55(3)
The University of Texas MD Anderson Cancer Center (US)
Openalex Percentile: Top 76%
Acute Myeloid Leukemia Research
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Donor-Derived <i>SF3B1</i>-Mutated Myelodysplastic Neoplasm/Syndrome. — L. Jeffrey Medeiros, Sanam Loghavi, et al. · PubMed (2025) | TGRS Research Map | TGRS