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

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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
Citation
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.
Related projects:	Národní program studia mutací a klonality leukemických buněk u pacientů s akutní myeloidní leukémií