Suppr超能文献

通过荧光原位杂交(FISH)和DNA片段分析检测1p和19q染色体改变——人类胶质瘤的一项比较研究

Detecting chromosomal alterations at 1p and 19q by FISH and DNA fragment analysis--a comparative study in human gliomas.

作者信息

Broholm H, Born P W, Guterbaum D, Dyrbye H, Laursen H

机构信息

Laboratory of Neuropathology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

出版信息

Clin Neuropathol. 2008 Nov-Dec;27(6):378-87. doi: 10.5414/npp27378.

Abstract

Histological classification of gliomas is important for treatment and as a prognostic predictor, but classification by histology alone can be a challenge. Molecular genetic investigations, in particular the combined loss of the short arm of chromosome 1 and the long arm of chromosome 19 (LOH1p/19q), has become a significant predictor of outcome in oligodendrogliomas. 1p/19q alterations can be investigated by fluorescence in situ hybridization (FISH), but controversies persist in the interpretation ofresults. Another technique is polymerase chain reaction (PCR) analysis using microsatellites as primers and capillary electrophoresis or southern blot as detection method. The objective of the present study was to compare the accuracy, reliability and feasibility of detecting chromosomal changes at 1p/19q with PCR microsatellite analysis and FISH in glial tumors in the clinical laboratory, where often only small formalin-fixed paraffin-embedded samples are available. Commercial DNA and normal cortex were used for comparison. The material comprised 41 glial tumors including 10 oligodendrogliomas (WHO Grades II and III, 5 each), 10 mixed oligoastrocytomas (WHO Grades II and III, 5 each), 10 astrocytomas (WHO Grades II and III, 5 each), and 11 glioblastomas (WHO Grade IV). Our data confirmed a correlation between FISH and LOH fragment analysis in classical oligodendrogliomas and in mixed oligoastrocytomas. Disparity was found among the glioblastomas, where fragment analysis showed 1p/19q loss in three cases, with no changes detected by FISH. The fragment analysis seems reliable and implementable for LOH 1p/19q investigation without patient-related control material.

摘要

胶质瘤的组织学分类对于治疗及作为预后预测指标很重要,但仅靠组织学分类可能具有挑战性。分子遗传学研究,尤其是1号染色体短臂和19号染色体长臂联合缺失(1p/19q缺失),已成为少突胶质细胞瘤预后的重要预测指标。1p/19q改变可通过荧光原位杂交(FISH)进行检测,但结果解读仍存在争议。另一种技术是使用微卫星作为引物的聚合酶链反应(PCR)分析,并以毛细管电泳或Southern印迹作为检测方法。本研究的目的是在临床实验室中比较PCR微卫星分析和FISH检测胶质肿瘤中1p/19q染色体变化的准确性、可靠性和可行性,临床实验室通常仅有少量福尔马林固定石蜡包埋样本。使用商业DNA和正常皮质进行比较。材料包括41例胶质肿瘤,其中10例少突胶质细胞瘤(WHO二级和三级各5例)、10例混合性少突星形细胞瘤(WHO二级和三级各5例)、10例星形细胞瘤(WHO二级和三级各5例)以及11例胶质母细胞瘤(WHO四级)。我们的数据证实了经典少突胶质细胞瘤和混合性少突星形细胞瘤中FISH与1p/19q缺失片段分析之间的相关性。在胶质母细胞瘤中发现了差异,片段分析显示3例存在1p/19q缺失,而FISH未检测到变化。对于1p/19q缺失的研究,在没有患者相关对照材料的情况下,片段分析似乎可靠且可行。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验