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DNA profiling analysis of 100 consecutive de novo acute myeloid leukemia cases reveals patterns of genomic instability that affect all cytogenetic risk groups.

Abstract：

:We have carried out a high-resolution whole genome DNA profiling analysis on 100 bone marrow samples from a consecutive series of de novo acute myeloid leukemia (AML) cases. After discarding copy number changes that are known to be genetic polymorphisms, we found that genomic aberrations (GA) in the form of gains or losses of genetic material were present in 74% of the samples, with a median of 2 GA per case (range 0-35). In addition to the cytogenetically detected aberration, GA were present in cases from all cytogenetic prognostic groups: 79% in the favorable group, 60% in the intermediate group (including 59% of cases with normal karyotype) and 83% in the adverse group. Five aberrant deleted regions were recurrently associated with cases with a highly aberrant genome (e.g., a 1.5 Mb deletion at 17q11.2 and a 750 kb deletion at 5q31.1). Different degrees of genomic instability showed a statistically significant impact on survival curves, even within the normal karyotype cases. This association was independent of other clinical and genetic parameters. Our study provides, for the first time, a detailed picture of the nature and frequency of DNA copy number aberrations in de novo AML.

journal_name

Leukemia

journal_title

Leukemia

authors

Suela J,Alvarez S,Cifuentes F,Largo C,Ferreira BI,Blesa D,Ardanaz M,García R,Marquez JA,Odero MD,Calasanz MJ,Cigudosa JC

doi

10.1038/sj.leu.2404653

subject

Has Abstract

pub_date

2007-06-01 00:00:00

pages

1224-31

issue

6

eissn

0887-6924

issn

1476-5551

pii

2404653

journal_volume

21

pub_type

杂志文章

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