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Updated: Aug 3, 2026

Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
The spectrum of myelodysplastic syndromes post-solid organ transplantation: a single institutional experience
M Menes1, E Vakiani, C E Keller
1Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA.
Abstract:
An increased incidence of acute myeloid leukemia (AML) has recently been documented in patients post-solid organ transplantation but the incidence and types of myelodysplastic syndromes (MDS) occurring in this patient population are not known. We identified 5 patients (3M, 2F, age 48-64 years) who developed MDS ranging from 1.8 to 25 years (median 4.2 years) post-solid organ transplantation, only 2 patients had received azathioprine. The cumulative incidence of MDS in heart and lung transplant recipients at 15 years was 0.5% and 1.8%, respectively, which is markedly higher compared to the general population. Low-risk types of MDS predominated, 3 of 5 patients are alive (median 3.9 years) since diagnosis. Deletions of chromosome 20q, which have not been previously reported in post-transplant MDS/AML, were identified in 3 cases. Our findings expand the morphologic and cytogenetic spectrum of MDS occurring post-solid organ transplantation and suggest that mechanisms beside azathioprine toxicity might be important in disease pathogenesis.
Insights
Myelodysplastic syndromes (MDS) can occur years after solid organ transplantation. This study identified new cytogenetic findings in post-transplant MDS, suggesting non-azathioprine mechanisms may contribute to disease development.
Area of Science:
- Hematology
- Oncology
- Transplantation Medicine
Background:
- An increased incidence of acute myeloid leukemia (AML) post-solid organ transplantation (SOT) is known.
- The incidence and characteristics of myelodysplastic syndromes (MDS) in SOT patients remain unclear.
Purpose of the Study:
- To investigate the incidence, clinical features, and cytogenetic landscape of MDS in patients following SOT.
- To compare the incidence of MDS in SOT recipients to the general population.
Main Methods:
- Retrospective case identification of 5 patients who developed MDS post-SOT.
- Analysis of patient demographics, transplant types, medications, time to MDS diagnosis, and cytogenetic abnormalities.
- Calculation of cumulative incidence of MDS in heart and lung transplant recipients.
Main Results:
- Five patients (3 male, 2 female, age 48-64) developed MDS 1.8-25 years post-SOT; only 2 received azathioprine.
- The 15-year cumulative incidence of MDS was 0.5% in heart and 1.8% in lung transplant recipients, significantly higher than the general population.
- Low-risk MDS predominated, and deletions of chromosome 20q were identified in 3 cases, a novel finding in post-transplant MDS/AML.
Conclusions:
- MDS occurs in SOT recipients, with a higher incidence than in the general population.
- Novel cytogenetic abnormalities, such as 20q deletions, are observed in post-transplant MDS.
- Mechanisms beyond azathioprine toxicity likely contribute to the pathogenesis of MDS post-SOT.

