Table 1. Commonly mutated genes in MDS... | American Society of Hematology

Table 1.

Commonly mutated genes in MDS

Mutated gene	Frequency, %	Blasts <5%	Blasts 5%-30%	Notes	Reference
TET2	20-30	Neutral	Neutral	Commonly associated with normal karyotype	12, 13, 27, 28, 30
SF3B1	20-25	Favorable	Neutral	Associated with ring sideroblasts	12, 13, 27, 28
ASXL1	15-20	Adverse	Neutral	Adverse in CMML	12, 13, 27
SRSF2	10-20	Adverse	Neutral	Commonly comutated with TET2 in CMML	12, 13, 27
DNMT3A	10-15	Neutral	Neutral	Associated with MDS-MLD and MDS-EB	12, 13, 27, 28, 30
RUNX1	∼10	Adverse	Adverse	Associated with MDS-MLD and MDS-EB	12, 13, 27, 28
U2AF1	<10	Adverse	Neutral	Associated with MDS-MLD and MDS-EB	12, 13, 27
EZH2	5	Adverse	Adverse	Higher frequency in CMML	12, 13, 27, 28
TP53	5-10	Adverse	Adverse	Commonly associated with therapy-related MDS and CK	12, 13, 27,,,,-32
IDH1/IDH2	<10	Neutral	Neutral	Associated with MDS-MLD and MDS-EB	12, 13, 27, 28

Mutated gene	Frequency, %	Blasts <5%	Blasts 5%-30%	Notes	Reference
TET2	20-30	Neutral	Neutral	Commonly associated with normal karyotype	12, 13, 27, 28, 30
SF3B1	20-25	Favorable	Neutral	Associated with ring sideroblasts	12, 13, 27, 28
ASXL1	15-20	Adverse	Neutral	Adverse in CMML	12, 13, 27
SRSF2	10-20	Adverse	Neutral	Commonly comutated with TET2 in CMML	12, 13, 27
DNMT3A	10-15	Neutral	Neutral	Associated with MDS-MLD and MDS-EB	12, 13, 27, 28, 30
RUNX1	∼10	Adverse	Adverse	Associated with MDS-MLD and MDS-EB	12, 13, 27, 28
U2AF1	<10	Adverse	Neutral	Associated with MDS-MLD and MDS-EB	12, 13, 27
EZH2	5	Adverse	Adverse	Higher frequency in CMML	12, 13, 27, 28
TP53	5-10	Adverse	Adverse	Commonly associated with therapy-related MDS and CK	12, 13, 27,,,,-32
IDH1/IDH2	<10	Neutral	Neutral	Associated with MDS-MLD and MDS-EB	12, 13, 27, 28

Adapted from Nazha et al³⁴ with permission.

CMML, chronic myelomonocytic leukemia; MDS-EB, myelodysplastic syndromes with excess blasts; MDS-MLD, myelodysplastic syndromes with multilineage dysplasia.