Related Experiment Video
Updated: Feb 22, 2026
Intra-Peritoneal Transplantation for Generating Acute Myeloid Leukemia in Mice
Published on: January 6, 2023
Comprehensive genetic analysis of donor cell derived leukemia with KMT2A rearrangement
Rieko Taniguchi1,2, Hideki Muramatsu1, Yusuke Okuno1,3
1Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Background:
Donor cell leukemia (DCL) occurs after allogeneic hematopoietic stem cell transplantation. Several mechanisms, including occult leukemic/preleukemic subclones in the donor graft and germline predisposition to leukemia, are proposed to be associated with DCL's molecular pathogenesis. We report a comprehensive genetic analysis of a patient with KMT2A-rearranged DCL after allogeneic bone marrow transplantation for refractory cytopenia of childhood.
Procedure:
We performed a whole-exome sequencing of the recipient's peripheral blood before transplant and the donor's peripheral blood and the recipient's bone marrow at the time of DCL diagnosis. RNA sequencing was also performed to detect fusion genes in DCL blasts.
Results:
There were no germline mutations that were associated with a predisposition to leukemia in the recipient and donor. Furthermore, there were no detectable somatic alterations except KMT2A-MLLT10 and other related gene fusions in DCL. KMT2A-MLLT10 was not detectable in the donor's bone marrow.
Conclusion:
We propose a novel pattern of the molecular pathogenesis of DCL solely involving a genetic mutation acquired after transplant with no identifiable genetic factor related to the donor and recipient.
