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08-06-2024 | Acute Myeloid Leukemia | Research

High hyperdiploid karyotype with ≥ 49 chromosomes represents a heterogeneous subgroup of acute myeloid leukemia with differential TP53 mutation status and prognosis: a single-center study from China

Authors: Zhiyu Zhang, Chunmei Fu, Yingxin Sun, Yizi Liu, Qian Wang, Wanhui Yan, Chunxiao Wu, Qingrong Wang, Zhao Zeng, Lijun Wen, Hongjie Shen, Li Yao, Dandan Liu, Suning Chen, Jinlan Pan

Published in: Annals of Hematology

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Abstract

High hyperdiploid karyotype with ≥ 49 chromosomes (which will be referred to as HHK) is rare in acute myeloid leukemia (AML). The European leukemia network (ELN) excluded those harboring only numerical changes (with ≥ 3 chromosome gains) from CK and listed them in the intermediate risk group, while the UK National Cancer Research Institute Adult Leukaemia Working Group classification defined ≥ 4 unrelated chromosome abnormalities as the cutoff for a poorer prognosis. Controversies occurred among studies on the clinical outcome of HHK AML, and their molecular characteristics remained unstudied. We identified 1.31% (133/10,131) HHK cases within our center, among which 48 cases only had numerical changes (NUM), 42 had ELN defined adverse abnormalities (ADV) and 43 had other structural abnormalities (STR). Our study demonstrated that: (1) No statistical significance for overall survival (OS) was observed among three cytogenetic subgroups (NUM, STR and ADV) and HHK AML should be assigned to the adverse cytogenetic risk group. (2) The OS was significantly worse in HHK AML with ≥ 51 chromosomes compared with those with 49–50 chromosomes. (3) The clinical characteristics were similar between NUM and STR group compared to ADV group. The former two groups had higher white blood cell counts and blasts, lower platelet counts, and mutations associated with signaling, while the ADV group exhibited older age, higher chromosome counts, higher percentage of myelodysplastic syndrome (MDS) history, and a dominant TP53 mutation.
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Metadata
Title
High hyperdiploid karyotype with ≥ 49 chromosomes represents a heterogeneous subgroup of acute myeloid leukemia with differential TP53 mutation status and prognosis: a single-center study from China
Authors
Zhiyu Zhang
Chunmei Fu
Yingxin Sun
Yizi Liu
Qian Wang
Wanhui Yan
Chunxiao Wu
Qingrong Wang
Zhao Zeng
Lijun Wen
Hongjie Shen
Li Yao
Dandan Liu
Suning Chen
Jinlan Pan
Publication date
08-06-2024
Publisher
Springer Berlin Heidelberg
Published in
Annals of Hematology
Print ISSN: 0939-5555
Electronic ISSN: 1432-0584
DOI
https://doi.org/10.1007/s00277-024-05834-5
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