Case report: Acute myeloid leukemia (2003)

Record number: 
244
MPHO Type: 
Time to detection: 
4 years
Alerting signals, symptoms, evidence of occurrence: 
Bone marrow recipient (original disease ALL) developed MDS/AML of donor (sister) origin 4 years post-transplant. .
Demonstration of imputability or root cause: 
Cytogenetic analysis of the tumor revealed multiple chromosomal aberrations. The donor was heterozygous for the Ashkenazi mutation of Bloom's syndrome, suggesting that donor-type leukemia could have resulted from genomic instability in the donor cells.
Groups audience: 
Suggest new keywords: 
case report
Living donor
Allogeneic bone marrow transplant
Bone marrow allograft transplant
Myelodysplastic syndrome
Leukemia, myelogenous, acute myeloid
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Expert comments for publication: 
The marrow donor also developed mediastinal B cell lymphoma 13 years after donation. She was found to be heterozygous for Askenazi mutation of Bloom's syndrome, suggesting that donor cell genomic instability could have contributed to leukemia. Therefore, most likely a post-transplant event in the marrow recipient, i.e., donor-derived, but not a tumor transmitted at time of transplant (most likely but remains conjectural).