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1p 和 19q 染色体在低级别少突胶质细胞瘤中的评估:一项描述性研究。

Chromosome 1p and 19q evaluation in low-grade oligodendrogliomas: a descriptive study.

机构信息

Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (I.R.S.T.), 47014 Meldola, Italy.

出版信息

Int J Mol Med. 2010 Jan;25(1):145-51.

PMID:19956913
Abstract

Oligodendrogliomas are rare primary brain tumors with variable patient outcomes which are not always adequately accounted for by clinical or pathological variables. The present study evaluated the prognostic implications of chromosome 1p and 19q status in a set of 23 low grade oligodendrogliomas (OGD II), and correlated the results with patient outcome. Loss of heterozygosity (LOH) and fluorescent in situ hybridization (FISH) analyses, the most widely used standard procedures, were used. 1p and 19q deletions were found in 65 and 61% of cases, respectively, using FISH and in 78 and 72% of cases using LOH. Both deletions were found in 56 and 64% of patients using FISH and LOH, respectively. Concordance between the results from the two techniques, determined by the Kappa statistics, ranged from fair to substantial depending on whether single or combined deletions were considered. Our results showed that the molecular alterations are associated with age and tumor localization. With regard to the impact of chromosomal alterations on clinical outcome, chromosome 19q deletions detected by LOH would seem to indicate a subgroup of patients at a higher risk of relapse, although the small number of patients recruited does not permit any definitive conclusions to be drawn. Further studies are now ongoing to determine whether this methodological approach could be potentially useful in low grade oligodendrogliomas to better characterize chromosomal alterations of 1p/19q and identify subgroups of patients with a higher risk of disease recurrence.

摘要

少突胶质细胞瘤是一种罕见的原发性脑肿瘤,患者的预后各不相同,而临床或病理变量并不能完全解释这些差异。本研究评估了一组 23 例低级别少突胶质细胞瘤(OGD II)中 1p 和 19q 染色体状态的预后意义,并将结果与患者的预后相关联。本研究使用了最广泛使用的标准程序,即杂合性缺失(LOH)和荧光原位杂交(FISH)分析。使用 FISH 和 LOH 分别在 65%和 61%的病例中发现了 1p 和 19q 缺失,在 78%和 72%的病例中发现了 LOH。使用 FISH 和 LOH 分别在 56%和 64%的患者中发现了这两种缺失。两种技术的结果之间的一致性,由 Kappa 统计确定,取决于是否考虑单一或联合缺失,范围从良好到实质性。我们的结果表明,分子改变与年龄和肿瘤定位有关。关于染色体改变对临床结果的影响,LOH 检测到的 19q 缺失似乎表明存在一个复发风险较高的患者亚组,尽管招募的患者数量较少,无法得出任何明确的结论。目前正在进行进一步的研究,以确定这种方法是否可以在低级别少突胶质细胞瘤中潜在地有用,以更好地描述 1p/19q 的染色体改变,并确定具有更高疾病复发风险的患者亚组。

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Comparison of 1p and 19q status of glioblastoma by whole exome sequencing, array-comparative genomic hybridization, and fluorescence in situ hybridization.
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PLoS One. 2015 Jul 2;10(7):e0132125. doi: 10.1371/journal.pone.0132125. eCollection 2015.
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