Some data suggest clonal genetic markers of disease progression such as (multi-hit) TP53 variants in patients with ERCC6L2 germline variants may be indicative of disease progression (24, 28–30) and given the poor prognosis of MDS/acute erythroid leukemia in these patients, early HSCT should be performed. Here, ERCC6L2 is linked to myelodysplastic syndrome.