Origin of leukemic relapse after bone marrow transplantation: comparison of cytogenetic and molecular analyses

Abstract

Leukemic relapse following bone marrow transplant (BMT) is generally due to the recurrence in recipient cells, but may rarely occur as a result of donor cell transformation. Donor cell relapse is generally identified using cytogenetic markers such as the sex chromosomes. Recently, molecular techniques have been used to identify the origin of bone marrow cells by their DNA restriction fragment length polymorphisms. We describe the case of a male pediatric patient who had a leukemic relapse 30 months following BMT from his sister. Both cytogenetic and molecular techniques were used to identify the origin of the leukemic relapse. Cytogenetic analyses indicated the absence of the Y chromosome and the presence of a donor cell type 9qh polymorphism, suggesting a donor cell relapse. Molecular analyses also indicated the absence of the Y chromosome but demonstrated the recurrence of recipient DNA markers from three other chromosomes, suggesting a recipient cell relapse. While the leukemic cell lineage cannot be definitively assigned in this case, our results suggest that caution must be exercised when assigning leukemic cell lineage following post-BMT relapse.

Bone Marrow Transplantation

“…Those data strongly suggest that careful and critical DNA probes should be made before assigning the leukaemic cell lineage in such cases [195].…”

“…Different mechanisms have been proposed to explain this phenomenon, among which the transfection of a dominant oncogene from the DNA of a degenerating host leukaemic cell to a developing donor cell. However, the whole question of donor relapse is now a subject of revision, since there have been recent reports showing a discrepancy between cytogenetic (indicating donor cells) and molecular (by restriction fragment length polymorfism: RFLP: indicating host cells) studies [195].…”