Impending relapse of myelodysplastic syndrome after allogeneic transplant is difficult to diagnose and requires a multi-modal approach

Abstract

BackgroundThe only potentially curative therapy for myelodysplastic syndrome is allogeneic hematopoietic cell transplant; unfortunately, there is a high relapse rate. The objective of this study was to perform a detailed clinicopathologic study of patients with relapsed myeloid neoplasm following allogeneic hematopoietic cell transplant for myelodysplastic syndrome.MethodsPre-transplant, post-transplant, and relapse bone marrow and peripheral blood morphologic features (including dysplasia) were retrospectively evaluated by study authors. Clinical features and results of cytogenetic analysis and engraftment/chimerism studies were obtained from the medical record.ResultsOur study describes 21 patients with a median time to relapse of 6 months (range 2–82). Ten of the patients relapsed with higher grade disease, including six with overt acute myeloid leukemia. Pre-transplant megakaryocyte dysplasia was associated with dysplastic megakaryocytes in the relapse specimen; however, neither erythroid dysplasia nor granulocytic dysplasia were associated with their counterpart in the relapse specimen. Relapse specimens had a lower marrow cellularity and higher blast percentage than pre-transplant disease. Cytogenetic comparisons before and after transplant showed variety, including clonal evolution (22%), the same abnormal clone (33%), or a different abnormal clone (22%).ConclusionsOur detailed review of post-transplant marrow biopsies prior to relapse highlights the difficulty in diagnosing relapse and particularly impending relapse.

Clinical and Cytogenetic Characterization of Early and Late Relapses in Patients Allografted for Myeloid Neoplasms with a Myelodysplastic Component

“…First, our results show a progressive decline of relapse incidence over the post-transplant time period. Although the majority of relapses occurred early after transplant, there was still a relapse incidence of 20% among those patients who survived relapse-free beyond 24 months post-transplant, which is in line with other analyses regarding relapse kinetics [ 3 , 10 , 11 ].…”

“…Several parameters, such as the presence of high-risk molecular-genetic features at diagnosis or refractory disease prior to transplant, were shown to be associated with a higher risk for post-transplant relapse in general [ 6 , 7 , 8 , 9 ]. However, data regarding the characterization of early and late relapses have been limited so far [ 10 , 11 ]. Therefore, our objective was to identify differences regarding patient-, disease- and transplant-related factors among patients who suffered early and late relapses and to obtain information on predictive factors for the one or the other.…”

The significance of mixed chimaerism and cell lineage chimaerism monitoring in paediatric patients post haematopoietic stem cell transplant

“…20,21 Aggressive paediatric leukaemias like juvenile myelomonocytic leukaemia (JMML) and other high-risk myeloid leukaemias tend to relapse within the first 6-12 months after HSCT. [22][23][24] Hence frequent chimaerism monitoring is recommended at this time. For an in-depth review of recommended testing intervals, refer to the European Society for Blood and Bone Marrow Transplantation's Handbook (2019).…”