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使用光谱核型分析和比较基因组杂交技术对胶质肿瘤进行分子细胞遗传学分析。

Molecular cytogenetic analysis of glial tumors using spectral karyotyping and comparative genomic hybridization.

作者信息

Squire J A, Arab S, Marrano P, Bayani J, Karaskova J, Taylor M, Becker L, Rutka J, Zielenska M

机构信息

Department of Medical Biophysics and Laboratory Medicine and Pathology, Ontario Cancer Institute, University of Toronto, 610 University Ave., Toronto, Ontario, Canada M5G 2M9.

出版信息

Mol Diagn. 2001 Jun;6(2):93-108. doi: 10.1054/modi.2001.22745.

Abstract

BACKGROUND

Glial tumors are the most common tumors of the central nervous system, affecting individuals of all ages. Conventional cytogenetics have been unable to identify a consistent chromosomal translocation or rearrangement in this group of tumors; thus, more advanced molecular cytogenetic approaches are required.

METHODS AND RESULTS

In this study, 16 glial tumors, including two recurrences and six glioma cell lines, were analyzed by spectral karyotyping (SKY) and comparative genomic hybridization (CGH). From 169 rearrangements detected by SKY, chromosomes 1 and 10 were the most frequently affected by translocation (18 of 169 and 16 of 169 rearrangements, respectively). Other frequently altered chromosomes included chromosomes 3 (13 of 169 rearrangements), 5 (ten of 169 rearrangements), 7 (ten of 169 rearrangements ), and 11 (ten of 169 rearrangements). A clustering of centromeric breakpoints was detected in chromosomes 3, 5, 10, 11, 16, 17, and 20. CGH analysis identified consistent gain of part or all of chromosome 7 among the 10 astrocytic tumors (five of ten specimens) in the study group. Analysis of the three gangliogliomas and one ependymoma identified a much simpler pattern of primarily numerical change.

CONCLUSION

Application of improved cytogenetic methods can increase our abilities to progress toward effective strategies of molecular diagnosis and classification of glial tumors.

摘要

背景

胶质肿瘤是中枢神经系统最常见的肿瘤,可影响各年龄段的个体。传统细胞遗传学无法在这类肿瘤中识别出一致的染色体易位或重排;因此,需要更先进的分子细胞遗传学方法。

方法与结果

在本研究中,通过光谱核型分析(SKY)和比较基因组杂交(CGH)对16例胶质肿瘤进行了分析,其中包括2例复发病例和6个胶质瘤细胞系。在通过SKY检测到的169起重排中,1号和10号染色体最常发生易位(分别为169起重排中的18起和16起)。其他经常发生改变的染色体包括3号(169起重排中的13起)、5号(169起重排中的10起)、7号(169起重排中的10起)和11号(169起重排中的10起)染色体。在3号、5号、10号、11号、16号、17号和20号染色体中检测到着丝粒断点聚集。CGH分析确定,在研究组的10例星形细胞瘤(10个标本中的5个)中,7号染色体部分或全部持续获得。对3例神经节胶质瘤和1例室管膜瘤的分析确定了一种主要为数量变化的简单得多的模式。

结论

应用改进的细胞遗传学方法可提高我们制定胶质肿瘤分子诊断和分类有效策略的能力。

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