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通过荧光原位杂交(FISH)技术可在胶质瘤冷冻涂片上检测到1号染色体短臂(1p)和19号染色体长臂(19q)的缺失:对立体定向活检的意义

Deletions of chromosomes 1p and 19q are detectable on frozen smears of gliomas by FISH: usefulness for stereotactic biopsies.

作者信息

Bouvier Corinne, Roll Patrice, Quilichini Benoit, Metellus Philippe, Calisti Arlette, Gilles Sophie, Chinot Olivier, Fina Frederic, Martin Pierre M, Figarella-Branger Dominique

机构信息

Laboratoire de Biopathologie Nerveuse et Musculaire, EA 3281, Faculté de Médecine, Marseille, France.

出版信息

J Neurooncol. 2004 Jun;68(2):141-9. doi: 10.1023/b:neon.0000027758.10286.c1.

Abstract

Among diffuse gliomas, oligodendrogliomas may account for 25% of cases. They have a better prognosis and chemosensitivity as compared to astrocytomas. Genetic studies have shown a correlation between oligodendrocyte phenotype and presence of 1p/19q deletions. In addition, these deletions are of prognostic value. The aim of the present study was to describe a new method to detect 1p/19q deletions when little tumoral material is available (stereotactic biopsies (SBs)). Since smears (cytological preparations) are routinely done for intraoperative diagnosis of gliomas, we have searched for 1p/19q deletions by FISH in a series of 30 patients with a glioma. In 14 cases, loss of heterozygosity (LOH) analysis was also performed in order to validate our method. We found that FISH analysis on frozen smears was a simple, rapid and reliable method to detect 1p/19q deletions and a good concordance was found with LOH data (85%). The main advantages of FISH analysis on frozen smears are the following. First, it requires little material and can be easily done in the case of SBs. Second, it has a higher sensitivity than LOH especially in infiltrative areas of gliomas. Third, it allows detection of a codeletion 1p/19q in a single tumor cell. In contrast, LOH analysis is easier to interpret and can detect smaller and partial deletion whose pronostic significance remains to be defined. In conclusion, these two techniques can be used to investigate 1p/19q status in gliomas. The appropriate choice of one or other of these two techniques will depend on the specific questions that need to be answered.

摘要

在弥漫性胶质瘤中,少突胶质细胞瘤可能占病例的25%。与星形细胞瘤相比,它们的预后和化疗敏感性更好。基因研究表明少突胶质细胞表型与1p/19q缺失之间存在相关性。此外,这些缺失具有预后价值。本研究的目的是描述一种在肿瘤材料较少时(立体定向活检(SBs))检测1p/19q缺失的新方法。由于涂片(细胞学标本)常用于胶质瘤的术中诊断,我们通过荧光原位杂交(FISH)在30例胶质瘤患者中检测1p/19q缺失。在14例病例中,还进行了杂合性缺失(LOH)分析以验证我们的方法。我们发现对冷冻涂片进行FISH分析是检测1p/19q缺失的一种简单、快速且可靠的方法,并且与LOH数据具有良好的一致性(85%)。对冷冻涂片进行FISH分析的主要优点如下。首先,它所需材料少,在立体定向活检的情况下很容易进行。其次,它比LOH具有更高的敏感性,尤其是在胶质瘤的浸润区域。第三,它能够在单个肿瘤细胞中检测到1p/19q联合缺失。相比之下,LOH分析更容易解释,并且能够检测到较小的部分缺失,其预后意义仍有待确定。总之,这两种技术可用于研究胶质瘤中的1p/19q状态。这两种技术中选择哪一种将取决于需要回答的具体问题。

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