Diffuse large B‑cell lymphoma followed by myelodysplastic syndrome with TP53 mutation: a case report and literature review

Abstract

Background Secondary myelodysplastic syndrome (sMDS) is increasing as more individuals survive treatment for a primary cancer diagnosis, which is associated with many factors, such as prior alkylator therapy, topoisomerase II inhibitors and higher-dose pretransplant irradiation, hematopoietic cell transplantation (HCT) and graft purging. Materials and methods We report a unique case of sMDS diagnosed 34 months after a sequential treatment regimen consisting of chemotherapy, autologous hematopoietic stem cell transplantation (auto-HSCT), and chimeric antigen receptor T (CAR-T) cell therapy for primary splenic diffuse large B-cell lymphoma (DLBCL). With reference to existing literature, we discuss plausible etiologic interpretations and research limitations. Results The patient was diagnosed with therapy-related myelodysplastic syndrome (t-MDS) with multihit-TP53. The patient achieved complete remission after allogeneic hematopoietic stem cell transplantation (allo-HSCT) and achieved sustained complete remission with full donor chimerism during 18 months of follow-up. Conclusion The case we reported highlights the cumulative risk of t-MDS associated with multi-modal intensive treatments for relapsed/refractory DLBCL, even with initial disease control. The etiology of sMDS is multifactorial. This case may provide novel hypothesis-generating clues for exploring the mechanisms underlying clonal evolution under multimodal hematopoietic stress. This single case raises the hypothesis that early allo-HSCT may contribute to favorable prognosis, which needs validation in larger cohorts.