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通过杂合性缺失研究分析肾嗜酸细胞瘤中1p染色体异常:与传统细胞遗传学和荧光原位杂交的相关性

Analysis of chromosome 1p abnormalities in renal oncocytomas by loss of heterozygosity studies: correlation with conventional cytogenetics and fluorescence in situ hybridization.

作者信息

Picken Maria M, Chyna Brent, Flanigan Robert C, Lee John M

机构信息

Department of Pathology, Loyola University Medical Center, Maywood, IL 60153, USA.

出版信息

Am J Clin Pathol. 2008 Mar;129(3):377-82. doi: 10.1309/KC2465ANDWVAXYDM.

Abstract

We previously showed by cytogenetics and fluorescence in situ hybridization (FISH) that the most common chromosomal abnormality in renal oncocytomas is loss of chromosome 1 or 1p. In the present study, we evaluated chromosome 1 by loss of heterozygosity (LOH) studies. DNA was extracted from paraffin sections. Three microsatellite markers were used: D1S508, D1S199, and D1S2734. The regions targeted by FISH probes and LOH markers were close to each other but not overlapping. Among 16 tumors evaluated by all 3 techniques, in 2 cases, LOH could not be interpreted. LOH was detected in at least 1 locus in 12 (86%) of 14 renal oncocytomas studied, with other loci being noninformative or not interpretable (1 case). In 2 cases, the LOH results were inconclusive. These results provide further evidence to support widespread abnormalities in chromosome 1p in renal oncocytoma. Determining whether such abnormalities are unique to renal oncocytomas or are also present in other tumors requires further studies.

摘要

我们之前通过细胞遗传学和荧光原位杂交(FISH)研究表明,肾嗜酸细胞瘤中最常见的染色体异常是1号染色体或1p缺失。在本研究中,我们通过杂合性缺失(LOH)研究对1号染色体进行了评估。从石蜡切片中提取DNA。使用了三个微卫星标记:D1S508、D1S199和D1S2734。FISH探针和LOH标记靶向的区域彼此相邻但不重叠。在通过所有三种技术评估的16个肿瘤中,有2例无法解释LOH情况。在14例研究的肾嗜酸细胞瘤中,有12例(86%)在至少1个位点检测到LOH,其他位点无信息或无法解释(1例)。有2例LOH结果不确定。这些结果为支持肾嗜酸细胞瘤中1p染色体广泛异常提供了进一步证据。确定这些异常是否为肾嗜酸细胞瘤所特有或也存在于其他肿瘤中,需要进一步研究。

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