Cytogenetic analysis of 109 pediatric central nervous system tumors

Neumann, Etela; Kalousek, Dagmar K.; Norman, Margaret G.; Steinbok, Paul; Cochrane, D. Douglas; Goddard, Karen

doi:10.1016/0165-4608(93)90200-6

Cited by 195 publications

(85 citation statements)

References 28 publications

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“…If the changes suggestive of intermediate ploidy are discounted, loss of 22q is the most frequent genetic abnormality in our series of ependymomas, occurring in 26% of ependymomas, which is in line with data from other CGH studies (Reardon et al, 1999;Hirose et al, 2001;Ward et al, 2001). However, the frequency of loss of 22q in ependymomas varies greatly (up to 71%) in previous studies that have used a variety of methods (Ransom et al, 1992;Neumann et al, 1993;Kramer et al, 1998;Vagner-Capodano et al, 1999;Zheng et al, 2000). This variability is likely to reflect ascertainment bias, because the frequency of loss of 22 in ependymomas varies according to histological variant, anatomic site, and age of the patient.…”

Section: Genetics and Genomicssupporting

confidence: 88%

“…Not only may such defects serve as markers of aggressive disease, allowing more efficient use of existing therapies, but they may also suggest biological targets for novel therapeutic approaches. Cytogenetic studies have shown that chromosomal abnormalities are relatively common in ependymomas (Stratton et al, 1989;Neumann et al, 1993;Hamilton and Pollack, 1997;Mazewski et al, 1999;Vagner-Capodano et al, 1999). However, there are few large studies of genetic abnormalities in this disease, and their role in tumour behaviour therefore remains unclear.…”

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confidence: 99%

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Genetic abnormalities detected in ependymomas by comparative genomic hybridisation

et al. 2002

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Using comparative genomic hybridisation, we have analysed genetic imbalance in a series of 86 ependymomas from children and adults. Tumours were derived from intracranial and spinal sites, and classified histologically as classic, anaplastic or myxopapillary. Ependymomas showing a balanced profile were significantly (P50.0005) more frequent in children than adults. Profiles suggesting intermediate ploidy were common (44% of all tumours), and found more often (P50.0005) in tumours from adults and the spinal region. Loss of 22q was the most common specific abnormality, occurring in 50% of spinal (medullary) ependymomas and 26% of tumours overall. Genetic profiles combining loss of 22q with other specific abnormalities -gain of 1q, loss of 6q, loss of 10q/10, loss of 13, loss of 14q/14 -varied according to site and histology. In particular, we showed that classic ependymomas from within the cranium and spine have distinct genetic profiles. Classic and anaplastic ependymomas with gain of 1q tended to occur in the posterior fossa of children and to behave aggressively. Our extensive data on ependymomas demonstrate significant associations between genetic aberrations and clinicopathological variables, and represent a starting point for further biological and clinical studies.

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Section: Genetics and Genomicssupporting

confidence: 88%

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confidence: 99%

Genetic abnormalities detected in ependymomas by comparative genomic hybridisation

et al. 2002

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“…A very recent deletion mapping study localized a common chromosomal disruption within a more centromeric region, at 17p11.2 (Scheurlen et al, 1997). Other recurrent abnormalities have been described, including structural aberrations of chromosomes 1, 3, 6, 11, 16 and X, loss of chromosome 22 and gains of chromosomes 6 and 8 (Farwell et al, 1977;Bigner et al, 1988Bigner et al, , 1990Griffin et al, 1988;Callen et al, 1989;Karnes et al, 1992;Neumann et al, 1993;Fujii et al, 1994). Few gene amplifications have been reported, involving MYC, MYCN or EGFR (Rouah et al, 1989;Wasson et al, 1990;Fuller and Bigner, 1992;Badiali et al, 1995), and more recently the 5p15 and 11q22 chromosomal regions (Reardon et al, 1997).…”

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confidence: 99%

“…Because of difficulties in generating adequate metaphases, cytogenetic data in these tumour types are still limited. The most frequent abnormality is isochromosome i(17q), found in approximately 30% of cases analysed with conventional cytogenetics (Bigner et al, 1988;Griffin et al, 1988;Biegel et al, 1989;Karnes et al, 1992;VagnerCapodano et al, 1992;Neumann et al, 1993;Fujii et al, 1994). This high incidence of i(17q) was confirmed in a molecular cytogenetic study, which also showed deletions of 17p in 44% of patients (Biegel et al, 1995).…”

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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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“…In 410 cases of astrocytomas Grades II and IV found at the CGAP site (large studies 1,22,26,27,29,30,50,62,117,141,149,154,159,175,201,207,211,249,270,295,298 ), karyotypes similar to those among the lowgrade astrocytomas persist, namely normal karyotypes or those only missing a sex chromosome, as well as karyotypes with copy number changes from chromosomes 7, 9, 10, 19, and 22, as described earlier. As with the low-grade tumors, these karyotypes typically possess gains and losses of the entire chromosome.…”

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confidence: 99%

Molecular cytogenetic analysis in the study of brain tumors: findings and applications

Bayani¹,

Pandita²,

Squire³

2005

FOC

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Classic cytogenetics has evolved from black and white to technicolor images of chromosomes as a result of advances in fluorescence in situ hybridization (FISH) techniques, and is now called molecular cytogenetics. Improvements in the quality and diversity of probes suitable for FISH, coupled with advances in computerized image analysis, now permit the genome or tissue of interest to be analyzed in detail on a glass slide. It is evident that the growing list of options for cytogenetic analysis has improved the understanding of chromosomal changes in disease initiation, progression, and response to treatment. The contributions of classic and molecular cytogenetics to the study of brain tumors have provided scientists and clinicians alike with new avenues for investigation. In this review the authors summarize the contributions of molecular cytogenetics to the study of brain tumors, encompassing the findings of classic cytogenetics, interphase- and metaphase-based FISH studies, spectral karyotyping, and metaphase- and array-based comparative genomic hybridization. In addition, this review also details the role of molecular cytogenetic techniques in other aspects of understanding the pathogenesis of brain tumors, including xenograft, cancer stem cell, and telomere length studies.

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Cytogenetic analysis of 109 pediatric central nervous system tumors

Cited by 195 publications

References 28 publications

Genetic abnormalities detected in ependymomas by comparative genomic hybridisation

Genetic abnormalities detected in ependymomas by comparative genomic hybridisation

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

Molecular cytogenetic analysis in the study of brain tumors: findings and applications

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