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临床检测到的神经母细胞瘤中不存在间质1号染色体缺失。

Lack of interstitial chromosome 1p deletions in clinically-detected neuroblastoma.

作者信息

Godfried M B, Veenstra M, Valent A, Sluis P v, Voûte P A, Versteeg R, Caron H N

机构信息

Department of Human Genetics, Academic Medical Center, University of Amsterdam, PO Box 22700 1100 DE, Amsterdam, The Netherlands.

出版信息

Eur J Cancer. 2002 Jul;38(11):1513-9. doi: 10.1016/s0959-8049(02)00137-5.

Abstract

Loss of heterozygosity (LOH) of the distal part of the short arm of chromosome 1 in neuroblastoma is a well characterised phenomenon. In addition, previous reports have described interstitial deletions outside the common region of loss on chromosome 1p36, suggesting additional tumour suppressor loci. In this study, we have searched extensively for interstitial 1p deletions in a panel of 67 neuroblastoma samples from clinically-detected cases. We used three VNTR probes and 10 dinucleotide markers from the 1p32-36 regions reported to show interstitial deletions. Fifteen (22%) tumours showed telomeric LOH without evidence for more proximal interstitial deletions. Forty-five tumours showed no LOH or allelic imbalance. Seven (10%) tumours demonstrated allelic imbalance for one or more markers. These tumours were subsequently analysed by fluorescent in situ hybridisation (FISH) and flow cytometry. The patterns found in all seven tumours were consistent with copy number changes of the entire chromosome 1, without evidence for interstitial deletions. This study indicates that interstitial deletions of chromosome 1p are rare in clinically-detected neuroblastoma when analysed by a combination of molecular and cytogenetic techniques.

摘要

神经母细胞瘤中1号染色体短臂远端杂合性缺失(LOH)是一种特征明确的现象。此外,既往报道描述了1p36常见缺失区域外的间质缺失,提示存在其他肿瘤抑制基因座。在本研究中,我们在一组来自临床检测病例的67例神经母细胞瘤样本中广泛寻找间质1p缺失。我们使用了3个VNTR探针和10个来自报道显示间质缺失的1p32 - 36区域的二核苷酸标记。15例(22%)肿瘤显示端粒LOH,无近端间质缺失证据。45例肿瘤未显示LOH或等位基因失衡。7例(10%)肿瘤显示一个或多个标记的等位基因失衡。随后通过荧光原位杂交(FISH)和流式细胞术对这些肿瘤进行分析。在所有7例肿瘤中发现的模式与整个1号染色体的拷贝数变化一致,无间质缺失证据。本研究表明,当采用分子和细胞遗传学技术联合分析时,临床检测的神经母细胞瘤中1p间质缺失罕见。

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