Aplastic anemia (AA) often complicates due to clonal diseases like secondary myelodysplastic syndrome (sMDS). We retrospectively analyzed 25 sMDS patients post-AA, 337 patients with de novo MDS, and 285 AA patients without MDS progression who received allogeneic hematopoietic stem cell transplantation (allo-HSCT), both before and after propensity score matching. Among sMDS patients, 80% had prior non-severe AA. Their median age at HSCT was 35 years, between de novo MDS (45 years, P=0.021) and non-progressing AA patients (24 years, P<0.001). Compared to de novo MDS, sMDS patients had lower pre-transplant platelet counts and frequently presented with early MDS status (2016 criteria: 44.0% vs 24.6%, P=0.033; 2022 criteria: 48.0% vs 21.4%, P=0.002). They exhibited higher rates of GATA2, PIGA mutations, and -7/del(7q) loss, while U2AF1 mutations were more common in de novo MDS. In sMDS, -7/del(7q) was often the sole chromosomal abnormality, significantly affecting the 1-year relapse incidence (25.0% vs 0.0%, P=0.045). Adjusted for baseline characteristics, sMDS survival was marginally better than de novo MDS. When AA severity was balanced, survival between sMDS and non-progressing AA showed no significant difference. Overall, post-AA sMDS patients exhibited unique clinical and genetic profiles, with -7/del(7q) holding distinctive significance, and allo-HSCT proved effective for these patients.
No relevant conflicts of interest to declare.
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