Comparative genomic hybridization is a powerful tool, complementary to cytogenetics, to identify chromosomal abnormalities in childhood acute lymphoblastic leukaemia

Paszek‐Vigier, Magda; Talmant, Pascaline; Méchinaud, Françoise; Garand, Richard; Harousseau, Jean‐Luc; Bataille, Régis; Avet‐Loiseau, Hervé

doi:10.1046/j.1365-2141.1997.4243233.x

Cited by 22 publications

(8 citation statements)

References 22 publications

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“…In the first group, three chromosomes (X, 14, and 21) were found in trisomy or in tetrasomy in all patients. To our knowledge, even if it is known that these three chromosomes are often found in excess in B-ALL with hyperdiploidy (Mertens et al, 1996;Raimondi et al, 1996;Karhu et al, 1997;Paszek-Vigier et al, 1997), this is the first report of a systematic excess of these chromosomes in this pathologic context. In the second group, trisomy or tetrasomy of chromosomes 4, 6, 8, 10, 17, and 18 was found in seven to 13 cases.…”

Section: Discussionmentioning

confidence: 52%

Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis

Elghezal¹,

Guyader²,

Radford‐Weiss³

et al. 2001

Genes Chromosom. Cancer

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We studied a stratified cohort of 51 childhood B-lineage acute lymphoblastic leukemias (B-ALLs) to evaluate the efficiency of spectral karyotyping (SKY) in the detection of chromosome aberrations previously diagnosed using chromosome banding and/or reverse transcriptase polymerase chain reaction. Despite the small number of cases analyzed, several important features emerge from the study: (a) The result of banding analysis was revised in two-thirds of the cases. Eighty-three chromosome anomalies previously undetected or not characterized using chromosome banding were identified by spectral karyotyping, even in patients with apparently normal karyotypes. (b) All hyperdiploidy cases showed one or more extra copies of chromosomes X, 14, and 21. (c) Two hidden rearrangements, a t(7;12)(?p12;p13), and a new translocation, a t(9;12)(q31;p13), both involving the TEL gene, were characterized. (d) Some cryptic rearrangements, such as the der(21) t(12;21) translocation, remained undetected. (e) No new recurrent chromosome anomalies were discovered with this technique. In conclusion, the present study confirms the efficiency of the SKY technique in resolving and characterizing many complex chromosome anomalies seen in childhood B-ALLs, but it raises questions about the ability of this technique to detect cryptic rearrangements, such as the t(12;21) translocation.

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Section: Discussionmentioning

confidence: 52%

Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis

Elghezal¹,

Guyader²,

Radford‐Weiss³

et al. 2001

Genes Chromosom. Cancer

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“…CGH was performed as previously described (Paszek-Vigier et al, 1997). Briefly, tumour DNA was extracted using phenol-chloroform technique.…”

Section: Comparative Genomic Hybridizationmentioning

confidence: 99%

Comparative genomic hybridization detects many recurrent imbalances in central nervous system primitive neuroectodermal tumours in children

Avet-Loiseau¹,

et al. 1999

Br J Cancer

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Summary A series of 23 children with primitive neuroectodermal tumours (PNET) were analysed with comparative genomic hybridization (CGH). Multiple chromosomal imbalances have been detected in 20 patients. The most frequently involved chromosome was chromosome 17, with a gain of 17q (11 cases) and loss of 17p (eight cases). Further recurrent copy number changes were detected. Extra copies of chromosome 7 were present in nine patients and gains of 1q were detected in six patients. A moderate genomic amplification was detected in one patient, involving two sites on 3p and the whole 12p. Losses were more frequent, and especially involved the chromosomes 11 (nine cases), 10q (eight cases), 8 (six cases), X (six patients) and 3 (five cases), and part of chromosome 9 (five cases). These recurrent chromosomal changes may highlight locations of novel genes with an important role in the development and/or progression of PNET.

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“…These losses had not been observed in a recent comprehensive CGH analysis. 24 However, these changes are well-known through chromosome banding analysis, 3,14 but the banding analysis revealed the loss at 9p only in one out of nine cases (patient 39) and the loss at 12p in two out of eight (patients 38 and 39). Furthermore, CGH analysis helped to identify the deleted area, making it possible to narrow it down to 9p22-pter and 12p12-p13, respectively.…”

Section: Discussionmentioning

confidence: 99%

“…The detected gains agree well with the results we obtained using chromosome banding, previous findings 14,21,22 and those presented in two recent CGH reports. 23,24 The most frequent gains of whole chromosomes (21, 18, X, 10, 17, 14, 4, 6 and 8) appear concurrently. This might indicate interaction between oncogenes and other genes in these chromosomes.…”

Section: Discussionmentioning

confidence: 99%

Comparative genomic hybridization in childhood acute lymphoblastic leukemia

et al. 1998

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DNA copy number changes were studied by comparative genomic hybridization (CGH) on bone marrow samples obtained from 72 patients with childhood acute lymphoblastic leukemia (ALL) at diagnosis. The patients had been admitted to the Helsinki University Central Hospital (Finland) between 1982 and 1997. CGH showed DNA copy number changes in 45 patients (62.5%) with a mean of 4.6 aberrations per patient (range, 1 to 22). The results of CGH and chromosome banding analysis were generally concordant, but CGH facilitated specific karyotyping in 34 cases. DNA copy number gains were more frequent than losses (gains:losses, 6:1). Gains of DNA sequences affected almost exclusively whole chromosomes and were most commonly observed in chromosomes 21 (25%), 18 (22.2%), X (19.4%), 10 (19.4%) and 17 (19.4%). The most common partial gain was 1q31-q32 (8.3%). The most common gains of chromosomes 21, 18, X, 10, 17, 14, 4, 6 and 8 appeared concurrently. High-level amplifications of small chromosome regions were sporadic, detected only in two patients (2.8%). Chromosome 21 was involved in both cases. The most common losses were 9p22-pter (12.5%) and 12p13-pter (11.1%). No statistically significant association between the CGH findings and the diagnostic white blood cell count was observed.

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Comparative genomic hybridization is a powerful tool, complementary to cytogenetics, to identify chromosomal abnormalities in childhood acute lymphoblastic leukaemia

Cited by 22 publications

References 22 publications

Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis

Reassessment of childhood B-lineage lymphoblastic leukemia karyotypes using spectral analysis

Comparative genomic hybridization detects many recurrent imbalances in central nervous system primitive neuroectodermal tumours in children

Comparative genomic hybridization in childhood acute lymphoblastic leukemia

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