Specificity of interphase fluorescence in situ hybridization for detection of chromosome aberrations in tumor pathology

Specificity of interphase fluorescence in situ hybridization for detection of chromosome aberrations in tumor pathology
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DOI:
10.1016/j.cancergencyto.2004.03.005
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发表时间:
2004-12-01
影响因子:
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通讯作者:
Tibiletti, MG
Tibiletti, MG
中科院分区:
其他
文献类型:
--
作者:
Tibiletti, MG

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间期荧光原位杂交(IFISH)是研究肿瘤染色体异常的一种有趣的细胞遗传学方法。该技术可应用于不同类型的肿瘤细胞核,包括印迹细胞核(IM)、常规细胞遗传学方法获得的细胞核(PB)、冷冻细胞核、石蜡包埋细胞核(PE)和石蜡包埋切片提取的细胞核(EX)。fish在肿瘤研究中是一种高灵敏度的方法,它可以提供存在于一小部分细胞中的遗传畸变的证据,如果只应用分子技术,这些细胞可能会逃避检测。尽管fish具有高灵敏度和通用性,但它是一种间接细胞遗传学方法,需要对照以具有足够的特异性。本研究使用不同类型的探针(α -卫星和YAC克隆)在不同类型的正常对照核(如PB、IM、EX和PE核)上杂交的fish实验中获得的现有数据,以确定不同染色体区域的单体和三体的阈值水平。我的研究结果表明,临界值取决于探针的类型和靶核的类型。因此,即使fish是一种多用途、高灵敏度的检测染色体异常的技术,缺乏准确的控制可能会导致一些异常的误诊。(C) 2004爱思唯尔公司版权所有。
Interphase fluorescence in situ hybridization (IFISH) is an interesting and intriguing cytogenetic approach in the study of tumor chromosomal abnormalities when metaphases are not available. This technique can be applied to different types of tumor nuclei, including imprinted nuclei (IM), nuclei obtained from conventional cytogenetic procedures (PB), frozen nuclei, paraffin-embedded nuclei (PE), and nuclei extracted from paraffin-embedded sections (EX). IFISH is a high-sensitivity approach in tumor studies that can give evidence of genetic aberrations present in a small percentage of cells that are likely to escape detection if only molecular techniques are applied. Despite its high sensitivity and versatility, IFISH is an indirect cytogenefic method and needs controls to have adequate specificity. This study includes present data obtained in IFISH experiments using different types of probes (alpha-satellite and YAC clones) hybridized on different types of normal control nuclei, such as PB, IM, EX, and PE nuclei, to define the threshold level for monosomy and trisomy of different chromosomal regions. My findings demonstrate that the cut-off values depend both on the types of probes and on the types of target nuclei. Therefore, even if IFISH is a versatile, high-sensitivity technique for detecting chromosomal abnormalities, the lack of accurate controls may result in the misdiagnosis of some abnormalities. (C) 2004 Elsevier Inc. All rights reserved.