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. 2021 Mar 11;13(6):1232. doi: 10.3390/cancers13061232

Table 1.

Mutations defining chromatin-spliceosome acute myeloid leukemia (CS-AML).

Driver Mutations Pathway/Functions Approximate Frequency (%)
de novo AML sAML MDS
SRSF2 Spliceosome 2–7 12–20 * 12–17 †
SF3B1 Spliceosome 2–10 7–11 * 13–33 †
U2AF1 Spliceosome 1–4 11–16 * 5–11 †
ZRSR2 Spliceosome 0–1 3–8 * 3–8 †
STAG2 Cohesin 2–7 10–14 * 3–8 †
RUNX1 Transcription factor 5–20 20–31 * 6–14
EZH2 Chromatin modification 2–4 5–9 * 4–15 †
BCOR Chromatin modification 2–3 7–8 * 2–6 †
ASXL1 Chromatin modification 5–15 19–32 * 10–23 †
MLL-PTD Chromatin modification 5–8 14 4–5

* The frequency is significantly higher in secondary acute myeloid leukemia (AML) (sAML) compared with de novo AML, as previously reported [7]. † The frequency is significantly higher in myelodysplastic syndrome (MDS) compared with de novo AML, as previously reported [8].