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Updated: Sep 13, 2025
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Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
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Donor-Derived SF3B1-Mutated Myelodysplastic Neoplasm/Syndrome
Anindita Ghosh1, Jie Xu2, Gautam Borthakur3
1Department of Hematopathology, MD Anderson Cancer Center, Houston, TX, USA aninditagh14@gmail.com.
Annals of Clinical and Laboratory Science
|August 1, 2025
Summary
A rare case of donor-derived myelodysplastic syndrome (MDS) with SF3B1 mutation occurred after stem cell transplant. This highlights diagnostic challenges of post-transplant neoplasms.
Area of Science:
- Hematology
- Oncology
- Stem Cell Transplantation
Background:
- Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders.
- SF3B1 mutations are common in MDS, typically associated with a favorable prognosis.
- Donor-derived neoplasms post-hematopoietic stem cell transplantation (HSCT) are rare but clinically significant.
Purpose of the Study:
- To report a rare case of donor-derived SF3B1-mutated MDS after haploidentical allogeneic HSCT.
- To discuss the diagnostic challenges and clinical implications of such cases.
- To highlight the poor characterization of SF3B1 mutations in post-transplant settings.
Main Methods:
- Case report of a 45-year-old woman undergoing haploidentical allo-HSCT for acute myeloid leukemia.
- Post-transplant surveillance including chimerism analysis and mutation detection.
- Clinical course monitoring, including graft-versus-host disease and infections.
Main Results:
- Achieved initial remission and full donor chimerism post-HSCT.
- Detected a novel SF3B1 K666N mutation in donor cells, leading to MDS.
- Patient experienced severe graft-versus-host disease, infections, and ultimately died.
Conclusions:
- Donor-derived MDS, even with SF3B1 mutations, can occur post-HSCT.
- Diagnosis can be challenging due to persistent donor chimerism.
- Further research is needed on SF3B1 mutations in the context of HSCT.
