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

Kayser, Sabine, Hills, Robert K., Langova, Ralitsa, Kramer, Michael, Guijarro, Francesca, Sustkova, Zuzana, Estey, Elihu H., Shaw, Carole M., Ráčil, Zdeněk, Mayer, Jiri, Zak, Pavel, Baer, Maria R., Brunner, Andrew M., Szotkowski, Tomas, Cetkovsky, Petr, Grimwade, David, Walter, Roland B., Burnett, Alan K., Ho, Anthony D., Ehninger, Gerhard, Müller-Tidow, Carsten, Platzbecker, Uwe, Thiede, Christian, Röllig, Christoph, Schulz, Angela, Warsow, Gregor, Brors, Benedikt, Esteve, Jordi, Russell, Nigel H., Schlenk, Richard F. and Levis, Mark J. 2021. Characteristics and outcome of patients with acute myeloid leukaemia and t(8;16)(p11;p13): results from an International Collaborative Study. British Journal of Haematology 192 (5) , pp. 832-842. 10.1111/bjh.17336

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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 5·48 years; five-year survival rate was 17%. Patients with s-/t-AML (P = 0·01) and those with complex karyotype (P = 0·04) 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 = 0·04); 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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Publisher: Wiley
ISSN: 0007-1048
Date of First Compliant Deposit: 17 September 2021
Date of Acceptance: 3 December 2020
Last Modified: 22 Sep 2021 11:30

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