Acute myeloid leukemia with t(8;16)(p11.2;p13.3)/KAT6A-CREBBP in adults

t(8;16)(p11.2;p13.3)/KAT6A-CREBBP is a rare recurrent cytogenetic abnormality associated with acute myeloid leukemia (AML). We report 15 cases with t(8;16)(p11.2;p13.3). All patients were adult and had AML: 13 women and 2 men, with a median age of 50 years. Ten patients had a history of malignancy and received cytotoxic therapies before therapy-related AML (t-AML), and five patients had de novo AML. All cases of AML showed monoblastic (n = 12) or myelomonocytic (n = 3) differentiation. Hemophagocytosis was observed in seven patients. All patients had t(8;16) in the stemline: seven had t(8;16) as the sole abnormality, two had one additional abnormality, and six had a complex karyotype. KAT6A/CREBBP rearrangement was confirmed by fluorescence in situ hybridization in 13 patients who had material available for analysis. All patients received induction chemotherapy, and 11 achieved complete remission after first induction. At the time of last follow-up, nine patients (eight t-AML and one de novo AML) died and six were alive, with a median overall survival of 18.2 months. The patients with de novo AML and/or patients with non-complex karyotype showed an undefined overall survival. We conclude that t(8;16)(p11.2;p13.3) commonly exhibits monoblastic or myelomonocytic differentiation and commonly arises in patients with a history of cancer treated with cytotoxic therapies. Patients with de novo AML with t(8;16) or t-AML with t(8;16) without adverse prognostic factors (e.g., complex karyotype) have a good outcome.