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对来自一个临床病理实体肿瘤的混合DNA进行比较基因组杂交研究。

Comparative genomic hybridization study on pooled DNAs from tumors of one clinical-pathological entity.

作者信息

Knuutila S, Armengol G, Björkqvist A M, el-Rifai W, Larramendy M L, Monni O, Szymanska J

机构信息

Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.

出版信息

Cancer Genet Cytogenet. 1998 Jan 1;100(1):25-30. doi: 10.1016/s0165-4608(97)00001-0.

Abstract

Comparative genomic hybridization (CGH) was performed using DNAs pooled from numerous specimens from tumor categories studied case-by-case. The series of six DNA pools consisted of 28 diffuse centroblastic lymphomas (DCL), 28 gastrointestinal stromal tumors (GIST), 21 primary chondrosarcomas (CS), 17 samples from the Ewing family of tumors (ET), 14 liposarcomas (LS), and 14 mesotheliomas (MS). Losses and gains present in at least 50% of the individual specimens were always detected in the pooled DNAs. The loss of the whole p-arm of chromosome 1 was observed even when the affected proportion of individual specimens was only 25%. Gains were also detected at frequencies lower than 50%, but with a high-level amplification in one or more specimens. In conclusion, the present pooled DNA study revealed the following changes: DCL had a gain at 18q22-qter; GIST had losses at 14 and 22q12, and gains at 5p, 8q22-24, 17q22-qter, and 19q13; ET had gains at 1q and 8q13-qter; LS had gains at 1q21-25 and 12q; and MS had a loss at 9p22-pter. No changes were observed in the CS DNA pool. The results from individual specimens also stressed the importance of these chromosomal regions to the tumorigenesis in the corresponding malignancies. This pooled DNA approach can thus be used for fast screening of recurrent DNA copy number in a specific tumor entity.

摘要

采用逐例研究的肿瘤类别中多个样本汇集的DNA进行比较基因组杂交(CGH)。这一系列六个DNA池分别由28例弥漫性中心母细胞淋巴瘤(DCL)、28例胃肠道间质瘤(GIST)、21例原发性软骨肉瘤(CS)、17例尤因家族性肿瘤(ET)样本、14例脂肪肉瘤(LS)和14例间皮瘤(MS)组成。在至少50%的个体样本中出现的缺失和增益在汇集的DNA中总能被检测到。即使个体样本中受影响的比例仅为25%,也观察到了1号染色体整个p臂的缺失。增益也在低于50%的频率下被检测到,但在一个或多个样本中有高水平的扩增。总之,目前的汇集DNA研究揭示了以下变化:DCL在18q22 - qter有增益;GIST在14和22q12有缺失,在5p、8q22 - 24、17q22 - qter和19q13有增益;ET在1q和8q13 - qter有增益;LS在1q21 - 25和12q有增益;MS在9p22 - pter有缺失。在CS DNA池中未观察到变化。个体样本的结果也强调了这些染色体区域对相应恶性肿瘤肿瘤发生的重要性。因此,这种汇集DNA方法可用于快速筛选特定肿瘤实体中反复出现的DNA拷贝数。

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