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Peer-reviewedCC BY-NC-ND 4.0In Vivo

Suspected Donor-derived Myeloid Neoplasia After Allogeneic HSCT: A Case-based Review of Clonal Evolution

  • GIUSEPPE MIRABILE1
  • ROBERTO BONO2
  • ADELE BOTTARO1
  • FABIO STAGNO1
  • GIUSEPPE COPPOLINO1
  • MANLIO FAZIO1
  • LUCA CASTAGNA2
  • ALESSANDRO ALLEGRA1
  1. 1Hematology Unit, Department of Human Pathology in Adulthood and Childhood “Gaetano Barresi”, University Hospital “G. Martino” Messina, Messina, Italy
  2. 2Bone Marrow Transplant Unit, Azienda Ospedaliera Ospedali Riuniti Villa Sofia Cervello, Palermo, Italy
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Abstract

Background/Aim: Donor-derived leukemia represents a rare but increasingly recognized clinical complication of allogeneic hematopoietic stem cell transplantation. Emerging evidence indicates that clonal hematopoiesis of indeterminate potential in donors provides the biological substrate for donor-derived leukemia, while post-transplant immune pressure and niche damage drive clonal selection and leukemic evolution.

Case Report: We describe the case of a 70-year-old woman with acute myeloid leukemia who underwent matched unrelated donor allogeneic hematopoietic stem cell transplantation (allo-HSCT) from a 25-year-old female donor. Following transplantation, serial bone marrow examinations demonstrated persistent predominant donor chimerism accompanied by progressive expansion of an aberrant myeloid population, increasing from approximately 2% to 14% by multiparametric flow cytometry, without clear morphologic relapse. Targeted next-generation sequencing at hematologic progression identified a pathogenic RAS-pathway mutation with a variant allele frequency of 7%, while no molecular features overlapping with the initially characterized acute myelogenous leukemia (AML) were identified. However, pre-transplant next-generation sequencing (NGS) data from both donor and recipient and lineage-specific chimerism of the abnormal population were unavailable, preventing definitive demonstration of donor origin.

Conclusion: This case represents a suspected donor-derived myeloid neoplasm arising after allo-HSCT and illustrates the diagnostic difficulty of distinguishing donor-derived disease from relapse and other post-transplant myeloid neoplasms. The case also highlights the potential value of integrating serial flow cytometry, molecular profiling, and lineage-specific chimerism analyses when unexplained cytopenias or progressive abnormal myeloid populations develop despite preserved donor chimerism. The proposed evolutionary and microenvironmental mechanisms should be considered hypothesis-generating and require further validation in molecularly characterized cases.

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Cite

BibTeXRIS
BibTeX
@article{mirabile2026suspected,
  title = {{Suspected Donor-derived Myeloid Neoplasia After Allogeneic HSCT: A Case-based Review of Clonal Evolution}},
  author = {GIUSEPPE MIRABILE and ROBERTO BONO and ADELE BOTTARO and FABIO STAGNO and GIUSEPPE COPPOLINO and MANLIO FAZIO and LUCA CASTAGNA and ALESSANDRO ALLEGRA},
  journal = {In Vivo},
  year = {2026},
  month = oct,
  doi = {10.21873/invivo.14527},
  url = {https://doi.org/10.21873/invivo.14527},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Suspected Donor-derived Myeloid Neoplasia After Allogeneic HSCT: A Case-based Review of Clonal Evolution
AU  - GIUSEPPE MIRABILE
AU  - ROBERTO BONO
AU  - ADELE BOTTARO
AU  - FABIO STAGNO
AU  - GIUSEPPE COPPOLINO
AU  - MANLIO FAZIO
AU  - LUCA CASTAGNA
AU  - ALESSANDRO ALLEGRA
PY  - 2026
DA  - 2026/10/29
JO  - In Vivo
DO  - 10.21873/invivo.14527
UR  - https://doi.org/10.21873/invivo.14527
AB  - Background/Aim: Donor-derived leukemia represents a rare but increasingly recognized clinical complication of allogeneic hematopoietic stem cell transplantation. Emerging evidence indicates that clonal hematopoiesis of indeterminate potential in donors provides the biological substrate for donor-derived leukemia, while post-transplant immune pressure and niche damage drive clonal selection and leukemic evolution.  Case Report: We describe the case of a 70-year-old woman with acute myeloid leukemia who underwent matched unrelated donor allogeneic hematopoietic stem cell transplantation (allo-HSCT) from a 25-year-old female donor. Following transplantation, serial bone marrow examinations demonstrated persistent predominant donor chimerism accompanied by progressive expansion of an aberrant myeloid population, increasing from approximately 2% to 14% by multiparametric flow cytometry, without clear morphologic relapse. Targeted next-generation sequencing at hematologic progression identified a pathogenic RAS-pathway mutation with a variant allele frequency of 7%, while no molecular features overlapping with the initially characterized acute myelogenous leukemia (AML) were identified. However, pre-transplant next-generation sequencing (NGS) data from both donor and recipient and lineage-specific chimerism of the abnormal population were unavailable, preventing definitive demonstration of donor origin.  Conclusion: This case represents a suspected donor-derived myeloid neoplasm arising after allo-HSCT and illustrates the diagnostic difficulty of distinguishing donor-derived disease from relapse and other post-transplant myeloid neoplasms. The case also highlights the potential value of integrating serial flow cytometry, molecular profiling, and lineage-specific chimerism analyses when unexplained cytopenias or progressive abnormal myeloid populations develop despite preserved donor chimerism. The proposed evolutionary and microenvironmental mechanisms should be considered hypothesis-generating and require further validation in molecularly characterized cases.
SN  - 0258-851X
SN  - 1791-7549
ER  -