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少突胶质细胞瘤中 1p/19q 染色体缺失:染色体关键区域的细化及连接蛋白免疫染色作为替代标记物的评估。

Loss of chromosome 1p/19q in oligodendroglial tumors: refinement of chromosomal critical regions and evaluation of internexin immunostaining as a surrogate marker.

机构信息

The Royal College of Surgeons in Ireland, Cancer Genetics, 2nd Floor York House, York Street, Dublin, Dublin 2, Ireland.

出版信息

J Neuropathol Exp Neurol. 2011 Mar;70(3):177-82. doi: 10.1097/NEN.0b013e31820c765b.

Abstract

Loss of chromosome 1p/19q in oligodendrogliomas represents a powerful predictor of good prognosis. Expression of internexin (INA), a neuronal specific intermediate filament protein, has recently been proposed as a surrogate marker for 1p/19q deletion based on the high degree of correlation between both parameters in oligodendrogliomas. The aim of this study was to assess further the diagnostic utility of INA expression in a set of genetically well-characterized oligodendrogliomas. On the basis of a conservative approach for copy number determination, using both comparative genomic hybridization and fluorescent in situ hybridization, INA expression as a surrogate marker for 1p/19q loss had both reduced specificity (80%) and sensitivity (79%) compared with respective values of 86% and 96% reported in the previous report. The histologic interpretation and diagnostic value of INA expression in oligodendrogliomas should therefore be assessed with greater caution when compared with 1p/19q DNA copy number analysis. In addition, DNA copy number aberrations of chromosomes 10, 16, and 17 were detected exclusively in 1p/19q codeleted samples, suggesting that other regions of the genome may contribute to the 1p/19q-deleted tumor phenotype inthese samples.

摘要

1p/19q 缺失的少突胶质细胞瘤预后良好。神经元特异性中间丝蛋白 INA 的表达最近被提出作为 1p/19q 缺失的替代标志物,基于两者在少突胶质细胞瘤中高度相关。本研究旨在进一步评估 INA 表达在一组遗传特征良好的少突胶质细胞瘤中的诊断效用。基于比较基因组杂交和荧光原位杂交的拷贝数确定保守方法,INA 表达作为 1p/19q 缺失的替代标志物,与之前报道的 86%和 96%相比,特异性(80%)和敏感性(79%)均降低。因此,与 1p/19q DNA 拷贝数分析相比,在评估 INA 表达在少突胶质细胞瘤中的组织学解释和诊断价值时应更加谨慎。此外,仅在 1p/19q 缺失的样本中检测到染色体 10、16 和 17 的 DNA 拷贝数异常,表明基因组的其他区域可能导致这些样本中 1p/19q 缺失的肿瘤表型。

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