2007
DOI: 10.1038/sj.leu.2404653
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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… Show more

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Cited by 48 publications
(40 citation statements)
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“…However, the frequency of C/EBPA mutations in the current study appears to be in relatively lower side of the previously reported, the possible difference may be due to relatively small number of cases studied and relatively older age distribution (13/53 patients >60 years) in our series. Despite relatively lower frequency, our results clearly show that the C/EBPA mutation can be detected in almost each FAB subgroup of de novo AML, mostly seen in M1, M2, M4 as studies reported previously [23][24][25][26].…”
Section: Resultssupporting
confidence: 81%
See 1 more Smart Citation
“…However, the frequency of C/EBPA mutations in the current study appears to be in relatively lower side of the previously reported, the possible difference may be due to relatively small number of cases studied and relatively older age distribution (13/53 patients >60 years) in our series. Despite relatively lower frequency, our results clearly show that the C/EBPA mutation can be detected in almost each FAB subgroup of de novo AML, mostly seen in M1, M2, M4 as studies reported previously [23][24][25][26].…”
Section: Resultssupporting
confidence: 81%
“…Specific PCR amplification followed by direct DNA sequencing analysis demonstrated that C/EBPA gene mutations were identified in 4/53 (7.5%) patients in the series. It is reported that C/EBPA mutations can be detected in overall 5-14% of CN-AML patients [23]. However, the frequency of C/EBPA mutations in the current study appears to be in relatively lower side of the previously reported, the possible difference may be due to relatively small number of cases studied and relatively older age distribution (13/53 patients >60 years) in our series.…”
Section: Resultscontrasting
confidence: 80%
“…Such instability leads to acquisition of additive molecular abnormalities that contribute to disease progression. 209,210 A mechanism of multistep leukemogenesis is in agreement with this hypothesis, particularly in AML, where a combination of events leading to cell proliferation with events leading to block myeloid differentiation (so-called type I mutations and type II mutations, respectively) is strongly suspected. 1,211,212 Due to their prognostic value, the mutational events screening is particularly important in CN-AML patients.…”
Section: Cooperation Between Gene Mutationsmentioning
confidence: 57%
“…SNP array platforms can detect genomic amplifications, deletions, SNP loss of heterozygosity (LOH), and regions of uniparental disomy (UPD) (copy-neutral LOH events) in cancer cells. Early studies using SNP arrays and array comparative genomic hybridization (CGH) platforms have suggested that both copy number alterations (CNAs) and UPD are common in AML genomes (6)(7)(8)(9)(10)(11)(12). However, these studies used low-resolution arrays, often used reference DNA that was not obtained from the same patient's normal cells, and did not routinely validate copy number changes with independent platforms.…”
Section: Aml ͉ Array Cgh ͉ Genomics ͉ Snp Arraymentioning
confidence: 99%