IPSS-M in myelodysplastic neoplasms arising from aplastic anemia and paroxysmal nocturnal hemoglobinuria

TO THE EDITOR:

Clonal evolution to myelodysplastic neoplasms/syndromes (MDSs) or acute myeloid leukemia represents the most serious late complication among patients with aplastic anemia (AA) and paroxysmal nocturnal hemoglobinuria (PNH).^1,2 Most post-AA/PNH MDS cases present high-risk features, with chromosome 7 abnormalities and mutations in ASXL1, RUNX1, SETBP1, and RAS genes as the most frequent molecular lesions.³ However, other cases have more favorable outcomes and are mainly driven by low-risk cytogenetic alterations (eg, del[13q] and del[20q]).⁴ We previously showed that MDS arising after AA and PNH constitute a genetically distinct MDS subentity with cytogenetic and molecular features that are typical of myeloid evolution from a previous acquired bone marrow (BM) failure syndrome.¹ Indeed, monosomy 7 as well as ASXL1 and RUNX1 mutations were significantly enriched in secondary AA and PNH cases when compared with a cohort...