Three distinct subgroups of hypodiploidy in acute lymphoblastic leukaemia

CJ Harrison, AV Moorman, ZJ Broadfield… - British journal of …, 2004 - Wiley Online Library
CJ Harrison, AV Moorman, ZJ Broadfield, KL Cheung, RL Harris, G Reza Jalali…
British journal of haematology, 2004Wiley Online Library
This study of children and adults with acute lymphoblastic leukaemia (ALL) is the largest
series of patients with hypodiploidy (< 46 chromosomes) yet reported. The incidence of 5%
was independent of age. Patients were subdivided by the number of chromosomes; near‐
haploidy (23–29 chromosomes), low hypodiploidy (33–39 chromosomes) and high
hypodiploidy (42–45 chromosomes). The near‐haploid and low hypodiploid groups were
characterized by their chromosomal gains and a doubled hyperdiploid population. Structural …
Summary
This study of children and adults with acute lymphoblastic leukaemia (ALL) is the largest series of patients with hypodiploidy (<46 chromosomes) yet reported. The incidence of 5% was independent of age. Patients were subdivided by the number of chromosomes; near‐haploidy (23–29 chromosomes), low hypodiploidy (33–39 chromosomes) and high hypodiploidy (42–45 chromosomes). The near‐haploid and low hypodiploid groups were characterized by their chromosomal gains and a doubled hyperdiploid population. Structural abnormalities were more frequent in the low hypodiploid group. Near‐haploidy was restricted to children of median age 7 years (range 2–15) whereas low hypodiploidy occurred in an older group of median age 15 years (range 9–54). Patients with 42–45 chromosomes were characterized by complex karyotypes involving chromosomes 7, 9 and 12. The features shared by the few patients with 42–44 chromosomes and the large number with 45 justified their inclusion in the same group. Survival analysis showed a poor outcome for the near‐haploid and low hypodiploid groups compared to those with 42–45 chromosomes. Thus cytogenetics, or at least a clear definition of the modal chromosome number, is essential at diagnosis in order to stratify patients with hypodiploidy into the appropriate risk group for treatment.
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