Comparative genomic hybridization as part of a new diagnostic strategy in childhood hyperdiploid acute lymphoblastic leukemia

Haas, OA; Henn, Traudl; Romanakis, Konstantinos; Manoir, Stanislas du; Lengauer, Christoph

doi:10.1038/sj.leu.2400943

Cited by 23 publications

(7 citation statements)

References 28 publications

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“…It has identified a number of clinically relevant chromosomal abnormalities (Romana et al, 1994;Berger et al, 2003), and allowed the detection of these alterations in patients with failed cytogenetic results, normal, complex or illdefined karyotypes (Harrison et al, 2005). In spite of its limited resolution, chromosome-based comparative genomic hybridization (cCGH) (Kallioniemi et al, 1992) has provided additional genomic information in some groups of patients (Haas et al, 1998;Larramendy et al, 1998).…”

Section: Introductionmentioning

confidence: 99%

Genome complexity in acute lymphoblastic leukemia is revealed by array-based comparative genomic hybridization

et al. 2007

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Section: Introductionmentioning

confidence: 99%

Genome complexity in acute lymphoblastic leukemia is revealed by array-based comparative genomic hybridization

et al. 2007

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“…However, studies using conventional comparative genome hybridization (CGH) on metaphase chromosomes also have failed in general to detect cryptic abnormalities in hyperdiploid cases. 19,20 In the present study, we utilized high-resolution, genomewide array-based CGH (array CGH) to investigate high hyperdiploid pediatric ALLs. With this technique, imbalances involving as little as 100 kb, that is, far below the detection limit of G-banding, M-FISH and conventional CGH, are seen, enabling the identification of hidden deletions and amplifications.…”

Section: Introductionmentioning

confidence: 99%

Identification of cryptic aberrations and characterization of translocation breakpoints using array CGH in high hyperdiploid childhood acute lymphoblastic leukemia

et al. 2006

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High hyperdiploidy, characterized by non-random trisomies, is the largest cytogenetic subgroup in childhood acute lymphoblastic leukemia (ALL). It is not known whether the gained chromosomes are sufficient for leukemogenesis or if additional genetic aberrations are necessary. However, the suboptimal chromosome morphology of hyperdiploid ALLs makes detection of structural abnormalities difficult if using cytogenetic techniques; alternative methods are, therefore, needed. We performed array comparative genome hybridization (CGH) analyses, with a resolution of 100 kb, of eight cases of high hyperdiploid childhood ALL to characterize structural abnormalities found with G-banding/multicolor fluorescence in situ hybridization (FISH) and to detect novel changes. The noncentromeric breakpoints of four rearrangements, including three translocations and one 1q duplication, were narrowed down to o0.2 Mb. Furthermore, four submicroscopic imbalances involving 0.6-2.7 Mb were detected, comprising two segmental duplications involving 1q22 and 12q24.31 in one case and two hemizygous deletions in 12p13.2-31 -including ETV6 -and in 13q32.3-33.1 in another case. Notably, FISH analysis of the latter revealed an associated reciprocal t(3;13)(q?;32.2-33.1). In conclusion, the array CGH analyses revealed putative leukemia-associated submicroscopic imbalances and rearrangements in 2/8 (25%) hyperdiploid ALLs. The detection and characterization of these additional genetic aberrations will most likely increase our understanding of the pathogenesis of high hyperdiploid childhood ALL.

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“…21 Although a large series of patients analyzed by CC suggest that chromosomes X, Y, and 20 are the most frequently involved, this study and comparative genomic hybridization (CGH) show that the chromosomes involved in hypodiploidy are not specific. 24,25 High hyperdiploidy with 51 to 65 chromosomes detected by flow cytometry was confirmed by CC or FISH. FC is a quick and appropriate method for identification of numerical aberrations with prognostic value and is useful for patient management.…”

Section: Discussionmentioning

confidence: 99%

A Strategy to Detect Chromosomal Abnormalities in Children With Acute Lymphoblastic Leukemia

Pérez-Vera

Frı́as

Carnevale

et al. 2004

Journal of Pediatric Hematology/Oncology

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Conventional cytogenetics (CC) can be used to identify chromosomal abnormalities that are predictors of treatment outcome in acute lymphoblastic leukemia (ALL). The detection of abnormalities in ALL is difficult because low mitotic index and poor-quality metaphases are obtained. Flow cytometry (FC) and fluorescence in situ hybridization (FISH) can be used to detect aneuploidy in any phase of the cell cycle, increasing the number of analyzable cells. The aim of this study was to develop a strategy combining these methods to improve the frequency of chromosome abnormality detection. One hundred children with newly diagnosed ALL were included. CC and DNA content analysis by FC were performed in all patients. The numerical abnormalities identified by both methods were compared and patients were classified as concordant or discordant. FISH was used to support aneuploidy results in discrepant cases using centromeric probes for the chromosomes most frequently involved in aneuploidy. CC and FC showed high concordance (86%). Fourteen cases were discrepant: nine showed hypodiploidy and low hyperdiploidy by cytogenetics and five showed high hyperdiploidy by FC. FISH confirmed aneuploidy in 12 cases in which it could be performed. High hyperdiploidy was the most common abnormality; the 31 cases showing this aneuploidy were identified by FC. The search for abnormalities must begin by measuring DNA content to detect this aneuploidy, which is useful to evaluate the patient's risk. However, it is important to screen for structural abnormalities by CC or molecular techniques. This strategy may detect chromosomal abnormalities, optimizing resources in laboratories where not all the screening methods are available.

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Comparative genomic hybridization as part of a new diagnostic strategy in childhood hyperdiploid acute lymphoblastic leukemia

Cited by 23 publications

References 28 publications

Genome complexity in acute lymphoblastic leukemia is revealed by array-based comparative genomic hybridization

Genome complexity in acute lymphoblastic leukemia is revealed by array-based comparative genomic hybridization

Identification of cryptic aberrations and characterization of translocation breakpoints using array CGH in high hyperdiploid childhood acute lymphoblastic leukemia

A Strategy to Detect Chromosomal Abnormalities in Children With Acute Lymphoblastic Leukemia

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