Comparative genomic hybridization in patients with supratentorial and infratentorial primitive neuroectodermal tumors

Russo, Carolyn; Pellarin, Malgorzata; Tingby, Ola; Bollen, Andrew W.; Lamborn, Kathleen R.; Mohapatra, Gayatry; Collins, V. Peter; Feuerstein, Burt G.

doi:10.1002/(sici)1097-0142(19990715)86:2<331::aid-cncr18>3.0.co;2-#

Cited by 135 publications

(112 citation statements)

References 30 publications

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“…They represent the most common non-glial malignancy of the brain in children and comprise up to 25% of all intracranial neoplasms in the pediatric age group (Kleihues et al, 2002). Advances in modern surgery and the introduction of optimized regimens of adjuvant radiotherapy and chemotherapy have improved the outcome for children from 10 to 50-70% in the past 30 years (Russo et al, 1999). To improve further the outcome of medulloblastoma patients, novel insights into the biology of these tumors is required.…”

Section: Introductionmentioning

confidence: 99%

SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas

et al. 2007

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In a genome-wide screen using differential methylation hybridization (DMH), we have identified a CpG island within the 5 0 region and untranslated first exon of the secretory granule neuroendocrine protein 1 gene (SGNE1/ 7B2) that showed hypermethylation in medulloblastomas compared to fetal cerebellum. Bisulfite sequencing and combined bisulfite restriction assay were performed to confirm the methylation status of this CpG island in primary medulloblastomas and medulloblastoma cell lines. Hypermethylation was detected in 16/23 (70%) biopsies and 7/8 (87%) medulloblastoma cell lines, but not in nonneoplastic fetal (n ¼ 8) cerebellum. Expression of SGNE1 was investigated by semi-quantitative competitive reverse transcription-polymerase chain reaction and found to be significantly downregulated or absent in all, but one primary medulloblastomas and all cell lines compared to fetal cerebellum. After treatment of medulloblastoma cell lines with 5-aza-2 0 -deoxycytidine, transcription of SGNE1 was restored. No mutation was found in the coding region of SGNE1 by single-strand conformation polymorphism analysis. Reintroduction of SGNE1 into the medulloblastoma cell line D283Med led to a significant growth suppression and reduced colony formation. In summary, we have identified SGNE1 as a novel epigenetically silenced gene in medulloblastomas. Its frequent inactivation, as well as its inhibitory effect on tumor cell proliferation and focus formation strongly argues for a significant role in medulloblastoma development.

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Section: Introductionmentioning

confidence: 99%

SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas

et al. 2007

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“…Molecular studies have recently demonstrated differences between MB and stP-NET. For instance, genetic and epigenetic lesions of the short arm of chromosome 17 (17p), frequently detected in MB, are rare in stPNET (20,21). Only sparse data have appeared on stPNET and mostly in conjunction with MB.…”

Section: Discussionmentioning

confidence: 99%

Somatostatin Receptor Subtype 2 Is Expressed by Supratentorial Primitive Neuroectodermal Tumors of Childhood and Can Be Targeted for Somatostatin Receptor Imaging

Frühwald

Rickert²,

O’Dorisio

et al. 2004

Clinical Cancer Research

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Purpose: Although gliomas predominate among central nervous system (CNS) neoplasms in adulthood, embryonal tumors are the most common malignant brain tumors in children. Despite novel treatment approaches, including improved radiotherapy and high-dose chemotherapy, survival rates remain unsatisfactory. The timely diagnosis of residual or recurrent embryonal CNS tumors and thus the earliest possible time point for intervention is often hampered by inaccuracies of conventional imaging techniques. Novel and refined imaging methodologies are urgently needed.Experimental Design: We have previously demonstrated the use of somatostatin receptor imaging (SRI) in the diagnosis of recurrent and residual medulloblastomas. Here, we evaluated somatostatin receptor type 2 (sst 2 ) expression using an antibody in an array of CNS tumors of childhood. Eight high-grade gliomas, 4 atypical teratoid/rhabdoid tumors, 7 supratentorial primitive neuroectodermal tumors (stPNET), 1 medulloepithelioma (ME), and 8 ependymomas were screened. Tumors positive in vitro were additionally analyzed in vivo using SRI.Results: Abundant expression of somatostatin receptor type 2 in stPNET, a ME, and ependymomas warranted in vivo imaging of 7 stPNET, 1 rhabdomyosarcoma, 3 ependymomas, 1 ME, and 1 glioblastoma. Although SRI was positive in 6/7 stPNET, 1 rhabdomyosarcoma, and 1 ME, none of the ependymomas nor the glioblastoma could be imaged using SRI. In selected cases SRI was more sensitive in the detection of relapse than conventional imaging by magnetic resonance imaging and computed tomography.Conclusions: SRI should be considered in the evaluation of residual or recurrent embryonal CNS tumors, especially stPNET. The strengths of SRI lie in the differentiation of reactive tissue changes versus residual or recurrent tumor, the detection of small lesions, and possibly in the distinction of stPNET from gliomas.

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“…In a study by Russo, et al, 231 53 supratentorial and infratentorial PNETs were examined using CGH to determine whether there was genetic evidence to establish that they were distinct tumors. Although six of the 43 infratentorial PNETs had no copy number aberrations, they were present in all 10 supratentorial PNETs.…”

Section: Neurosurg Focus / Volume 19 / November 2005mentioning

confidence: 99%

“…5). Chromosome 17 aberrations appear to distinguish between infratentorial and supratentorial tumors, 43,231 and are an indicator of progression. 11,184 The mapping of TP53 to 17p13 makes TP53 an ideal candidate for critical tumor suppressor gene involved in pathogenesis; however the role of TP53 has been uncertain, with only 5 to 10% of tumors showing mutations.…”

Section: Neurosurg Focus / Volume 19 / November 2005mentioning

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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Comparative genomic hybridization in patients with supratentorial and infratentorial primitive neuroectodermal tumors

Cited by 135 publications

References 30 publications

SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas

SGNE1/7B2 is epigenetically altered and transcriptionally downregulated in human medulloblastomas

Somatostatin Receptor Subtype 2 Is Expressed by Supratentorial Primitive Neuroectodermal Tumors of Childhood and Can Be Targeted for Somatostatin Receptor Imaging

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

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