The 65 children and adolescents with GATA2 deficiency had been diagnosed with RCC (n = 36), MDS-EB (n = 22), MDS-EBt (n = 6) or MDR-AML (1) at a median age of 12.8 (4.4–18.6) years. Here, GATA2 is linked to acute myeloid leukemia.