Case of Myelodysplastic Syndrome 15 Years After Kidney Transplantation Under Long-Term Immunosuppression

In solid organ transplant recipients receiving long-term immunosuppression, persistent or progressive pancytopenia is often initially attributed to infections or drug toxicity, thereby potentially delaying the recognition of clonal myeloid disorders and germline predispositions. We report the case of a kidney transplant recipient who had predominantly maintained tacrolimus-based immunosuppression and presented with progressive pancytopenia and marked reticulocytopenia. Bone marrow evaluation revealed severe hypocellularity with suppression of granulopoiesis and erythropoiesis, as well as prominent dysmegakaryopoiesis. Flow cytometry showed a small population of immunophenotypically aberrant myeloid blasts, supporting a diagnosis of hypocellular myelodysplastic syndrome. Myeloid gene next-generation sequencing detected a FANCA missense variant (c.3630C > A; p.F1210L; variant allele frequency 47.2%), prompting consideration of germline-associated marrow failure or genetic susceptibility and the need for confirmatory testing in nonhematopoietic tissues. During hospitalization, the patient developed severe opportunistic infections that rapidly progressed to respiratory failure and hemodynamic instability. This case highlights the need for early marrow evaluation and genetic risk stratification in transplant recipients with unexplained cytopenia and for the dynamic balancing of hematopoietic rescue against preservation of allograft function to reduce diagnostic delays and subsequent complications.