Characteristics and outcome of patients with acute myeloid leukaemia and t(8;16)(p11;p13): results from an International Collaborative Study*

In acute myeloid leukaemia (AML) t(8;16)(p11;p13)/MYST3–CREBBP is a very rare abnormality. Previous small series suggested poor outcome. We report on 59 patients with t(8;16) within an international, collaborative study. Median age was 52 (range: 16–75) years. AML de novo in 58%, therapy-related (t-AML) 37% and secondary after myelodysplastic syndrome (s-AML) 5%. Cytogenetics revealed complex karyotype 43%. Besides MYST3–CREBBP, whole-genome sequencing subset of 10 recurrent mutations ASXL1, BRD3, FLT3, MLH1, POLG, TP53, SAMD4B (n = 3, each), EYS, KRTAP9-1 SPTBN5 4, RUNX1 TET2 2, each). Complete remission intensive chemotherapy achieved 84%. follow-up 5·48 years; five-year survival rate 17%. Patients s-/t-AML (P 0·01) those 0·04) had inferior prognosis. Allogeneic haematopoietic cell transplantation (allo-HCT) performed 21 (36%) patients, including 15 first complete (CR1). Allo-HCT CR1 significantly improved 0·04); multivariable analysis that allo-HCT effective but not s-AML/t-AML less exhibiting karyotype. summary, outcomes are dismal chemotherapy, may be substantially CR1.