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

• Authors: KAYSER S.; HILLS R. K.; LANGOVA R.; KRAMER M.; GUIJARRO F.; ŠUSTKOVÁ Zuzana; ESTEY E. H.; SHAW C. M.; RÁČIL Zdeněk; MAYER Jiří; ZAK Pavel; BAER M. R.; BRUNNER A. M.; SZOTKOWSKI T.; CETKOVSKY Petr; GRIMWADE D.; WALTER R. B.; BURNETT A. K.; HO A. D.; EHNINGER G.; MULLER-TIDOW C.; PLATZBECKER U.; THIEDE C.; ROLLIG C.; SCHULZ A.; WARSOW G.; BRORS B.; ESTEVE J.; RUSSELL N. H.; SCHLENK R. F.; LEVIS M. J.
• Year of publication: 2021
• Type: Article in Periodical
• Magazine / Source: British journal of haematology
• MU Faculty or unit: Faculty of Medicine
• web: https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.17336
• Doi: http://dx.doi.org/10.1111/bjh.17336
• Keywords: acute myeloid leukaemia; t(8;16)(p11;p13)/MYST3-CREBBP; whole-genome sequencing; allogeneic haematopoietic cell transplantation; outcome
• Description: 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 was de novo in 58%, therapy-related (t-AML) in 37% and secondary after myelodysplastic syndrome (s-AML) in 5%. Cytogenetics revealed a complex karyotype in 43%. Besides MYST3-CREBBP, whole-genome sequencing on a subset of 10 patients revealed recurrent mutations in ASXL1, BRD3, FLT3, MLH1, POLG, TP53, SAMD4B (n = 3, each), EYS, KRTAP9-1 SPTBN5 (n = 4, each), RUNX1 and TET2 (n = 2, each). Complete remission after intensive chemotherapy was achieved in 84%. Median follow-up was 5 center dot 48 years; five-year survival rate was 17%. Patients with s-/t-AML (P = 0 center dot 01) and those with complex karyotype (P = 0 center dot 04) had an inferior prognosis. Allogeneic haematopoietic cell transplantation (allo-HCT) was performed in 21 (36%) patients, including 15 in first complete remission (CR1). Allo-HCT in CR1 significantly improved survival (P = 0 center dot 04); multivariable analysis revealed that allo-HCT in CR1 was effective in de novo AML but not in patients with s-AML/t-AML and less in patients exhibiting a complex karyotype. In summary, outcomes of patients with t(8;16) are dismal with chemotherapy, and may be substantially improved with allo-HCT performed in CR1.

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