Table 2

Clinical correlative studies of ASXL1 mutations in patients with AML

StudyNo. of patientsMutational frequency, %Clinical findingsPatient population/comments on study design
65  63 19 ASXL1 mutations exclusive with NPM1 mutations (validated in at least 1 larger study). No specific subtype of AML studied. No effects on clinical outcome studied. 
47  67 25 None. No specific subtype of AML studied. No effects on clinical outcome studied. 
73  501 10.8 Mutation associated with older patients. Mutant patients had lower complete remission rate and shorter OS but ASXL1 mutations not an independent predictor of adverse outcome in MVA. All patients with de novo AML from Taiwan. ASXL1 mutations significantly associated with RUNX1 mutations. 
6  423 8.9 ASXL1 mutations much more common in AML patients >60 y of age compared with younger patients. ASXL1 mutations associated with adverse OS only in ELN-favorable patients. ASXL1 mutations exclusive with NPM1 mutations. All patients with CN-AML and all received cytarabine/daunorubicin-based first-line therapy on a CALGB trial. 
46  740 17.2 Mutation associated with older patients. ASXL1 mutations were an adverse predictor of worsened OS. All patients with cytogenetically defined intermediate-risk AML. ASXL1 mutations significantly associated with RUNX1 mutations. 
19  502 ASXL1 mutations were an adverse predictor of worsened OS in overall cohort as well as intermediate-risk AML patients. All patients aged 16-60 y of age from the ECOG E1900 randomized phase 3 trial of standard dose (45 mg/mg2) or high-dose daunorubicin (90 mg/mg2) plus cytarabine induction therapy. 
StudyNo. of patientsMutational frequency, %Clinical findingsPatient population/comments on study design
65  63 19 ASXL1 mutations exclusive with NPM1 mutations (validated in at least 1 larger study). No specific subtype of AML studied. No effects on clinical outcome studied. 
47  67 25 None. No specific subtype of AML studied. No effects on clinical outcome studied. 
73  501 10.8 Mutation associated with older patients. Mutant patients had lower complete remission rate and shorter OS but ASXL1 mutations not an independent predictor of adverse outcome in MVA. All patients with de novo AML from Taiwan. ASXL1 mutations significantly associated with RUNX1 mutations. 
6  423 8.9 ASXL1 mutations much more common in AML patients >60 y of age compared with younger patients. ASXL1 mutations associated with adverse OS only in ELN-favorable patients. ASXL1 mutations exclusive with NPM1 mutations. All patients with CN-AML and all received cytarabine/daunorubicin-based first-line therapy on a CALGB trial. 
46  740 17.2 Mutation associated with older patients. ASXL1 mutations were an adverse predictor of worsened OS. All patients with cytogenetically defined intermediate-risk AML. ASXL1 mutations significantly associated with RUNX1 mutations. 
19  502 ASXL1 mutations were an adverse predictor of worsened OS in overall cohort as well as intermediate-risk AML patients. All patients aged 16-60 y of age from the ECOG E1900 randomized phase 3 trial of standard dose (45 mg/mg2) or high-dose daunorubicin (90 mg/mg2) plus cytarabine induction therapy. 

CALGB, Cancer and Leukemia Group B; ELN, European Leukemia Net; MVA, multivariate analysis.

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