Clinical course of autologous recovery with chromosomal abnormalities after allogeneic hematopoietic stem cell transplantation

After primary graft failure following allogeneic hematopoietic stem cell transplantation, some patients experience autologous recovery of hematopoiesis without salvage transplantation. However, clinicians occasionally encounter unusual chromosomal abnormalities in recipient cells, not related to the original underlying diseases. In this study, through a survey based on data from the nationwide registry at the Japan Society for Hematopoietic Cell Transplantation, 42 patients were identified as having chromosomal abnormalities after autologous recovery. The complex chromosomal abnormalities were not consistent and randomly changed at each testing. Of the 42 patients, seven experienced disappearance of chromosome abnormalities without any treatment, and the probability was estimated as 17.4% (95% CI: 7.5–30.7%) at the 5-year observation. On the other hand, two patients developed hematologic malignancy at 1447 and 6202 days. Ten patients were alive without relapse or development of hematologic disorders, even though chromosomal abnormalities were continuously detected at a median of 3192 (103–4710) days. In conclusion, chromosomal abnormalities can persist for more than 10 years, and may eventually contribute to hematologic malignancy development in a small fraction of cases. Although oncogenic effects of the chromosomal abnormalities are still unclear, these findings may provide supporting evidence for late occurrence of secondary malignant neoplasms after cancer treatment.