IDH1/2 mutations are common in acute myeloid leukemia (AML) and represent a therapeutic
target. The GIMEMA AML1516 observational protocol was designed to study the prevalence
of IDH1/2 mutations and associations with clinico-biological parameters in a cohort of Italian AML
patients. We analyzed a cohort of 284 AML consecutive patients at diagnosis, 139 females and
145 males, of a median age of 65 years (range: 19–86). Of these, 38 (14%) harbored IDH1 and
51 (18%) IDH2 mutations. IDH1/2 mutations were significantly associated with WHO PS >2 (p < 0.001)
and non-complex karyotype (p = 0.021) when compared to IDH1/2-WT. Furthermore, patients with
IDH1 mutations were more frequently NPM1-mutated (p = 0.007) and had a higher platelet count
(p = 0.036). At relapse, IDH1/2 mutations were detected in 6 (25%) patients. As per the outcome,
60.5% of IDH1/2-mutated patients achieved complete remission; overall survival and event-free
survival at 2 years were 44.5% and 36.1%, respectively: these rates were similar to IDH1/2-WT. In
IDH1/2-mutated patients, high WBC proved to be an independent prognostic factor for survival.
In conclusion, the GIMEMA AML1516 confirms that IDH1/2 mutations are frequently detected at
diagnosis and underlines the importance of recognizing IDH1/2-mutated cases up-front to offer the
most appropriate therapeutic strategy, given the availability of IDH1/2 inhibitors