Table 2.

Prognostic implications of gene mutations in patients with MDS or AML

GeneDiseasePatients, n% with mutationPrognosis of patients carrying mutation vs. wild typeStudy
DNMT3AaAML41523Worse OS [HR, 1.38 (95% CI, 1.13–2.05); P = 0.022](21)
AML60512Worse OS (median, 15.0 ± 1.9 mo; P < 0.001); worse EFS (median, 8.0 ± 1.2 mo; P = 0.01)(22)
AML39823Improved survival to high-dose daunorubicin in patients enrolled in ECOG E1900 carrying mutant DNMT3a compared with patients with wild-type DNMT3a(20)
MDS1508Worse OS (log-rank P = 0.005), worse EFS (P = 0.009), higher rate of transformation to AML (P = 0.007)(23)
TET2aAML7837No impact on response or OS(30)
AML31827Inferior OS (median, 20.4 vs. 62.2 mo; P = 0.173), shorter EFS (median, 6.7 vs. 18.7 mo; P = 0.009), shorter time to relapse (median, 10.3 vs. 41.3 mo; P = 0.005)(24)
MDS43920No impact on survival(26)
MDS9623Independent prognostic factor for OS [HR, 5.2 (95% CI, 1.6–16.3); P = 0.005](31)
MDS or AML8613No impact on OS, but favorable response to azaciditine (82% mutant vs. 45% wild type; P = 0.007)(32)
IDH1/2aAML35814 in IDH1, 19 in IDH2Worse DFS in patients with NPM1 mutations without FLT3 mutations(35)
AML8936 in IDH1, 11 in IDH2Worse OS in patients carrying wild-type FLT3 and mutant NPM1 alleles(78)
AML520 and 8059-16 in IDH1 3-7 in IDH2Lower complete remission rate and shorter OS in patients with CN-AML carrying NPM1 mutations(37, 38)
ASXL1MDS43914Worse OS [HR, 1.38 (95% CI, 1.00–1.89); P = 0.006](26)
AML8825Independent prognostic factor for shorter OS [HR, 1.52 (95% CI, 1.12–2.4); P = 0.010](45)
EZH2aMDS4396Worse OS [HR, 2.13 (95% CI, 1.36–3.33); P = 0.001](26)
MLLAML60514Translocations involving the MLL gene portend very poor OS (median, 15.0 ± 1.9 mo; P < 0.001) and EFS (median, 8.0 ± 1.2 mo; P < 0.01)(22)
SF3B1MDS35420Favorable prognosis, longer EFS [HR, 0.1 (95% CI, 0.0–0.7); P = 0.02](59)
SRSF2aMDS19312Shorter OS [median, 17 vs. 39% at 5 y (HR, 1.76; 95% CI, 1.0–3.1); P = 0.049]; shorter 5-y DFS [median, 39 vs. 69% (HR, 2.5; 95% CI, 1.22–5.1); P = 0.012](65)
U2AF1aMDS1937More rapid transformation to AML [HR, 2.53 (95% CI, 0.9-7.13); P = 0.079]; no impact on OS [HR, 1.49 (95% CI, 0.54–4.1); P = 0.44](65)

Abbreviations: CI, confidence interval; DFS, disease-free survival; EFS, event-free survival; OS, overall survival.

  • aPrognostic value remains controversial and is not currently used in clinical practice.