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Chromosome gain is frequent in acute myeloid leukemia (AML) and is counted alongside structural abnormalities when determining karyotype complexity. However, there are few studies investigating the cytogenetic profile and outcome of patients with a hyperdiploid karyotype (49-65 chromosomes, HK). We identified 221 (14%) patients with HK out of 1563 patients with three or more chromosomal abnormalities. HK was not associated with sex, white cell count and secondary disease status, but was more prevalent among children (22% vs 13%). The pattern of chromosomal gain and loss was non-random and chromosomes 8, 13 and 21 were the most frequently gained. Three distinct subgroups (numerical, structural and adverse) were identified with differential outcome: 5-year cumulative incidence of relapse of 52%, 68% and 76%, respectively (P=0.008). Patients in the adverse subgroup had poorer survival compared with patients with only numerical abnormalities (adjusted hazard ratio: 2.01 (95% confidence interval: 1.43-2.83), P=0.0002). This outcome heterogeneity was similar among children and adults. In conclusion, AML patients with a HK should not automatically be assigned to the adverse cytogenetic risk group on the basis of complexity. Instead they should be assessed for the presence of specific chromosomal abnormalities, which are known to harbour an adverse effect.

Original publication

DOI

10.1038/leu.2013.198

Type

Journal article

Journal

Leukemia

Publication Date

02/2014

Volume

28

Pages

321 - 328

Keywords

Adolescent, Adult, Aged, Aneuploidy, Child, Child, Preschool, Chromosome Aberrations, Female, Genetic Heterogeneity, Humans, Infant, Infant, Newborn, Karyotype, Leukemia, Myeloid, Acute, Male, Middle Aged, Patient Outcome Assessment, Polyploidy, Prognosis, Young Adult