通过比较基因组杂交评估软骨肉瘤中DNA序列的增益、缺失和扩增。
Gains, losses, and amplifications of DNA sequences evaluated by comparative genomic hybridization in chondrosarcomas.
作者信息
Larramendy M L, Tarkkanen M, Valle J, Kivioja A H, Ervasti H, Karaharju E, Salmivalli T, Elomaa I, Knuutila S
机构信息
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
出版信息
Am J Pathol. 1997 Feb;150(2):685-91.
Comparative genomic hybridization was used to search for previously unknown gains and losses of DNA sequences along all chromosome arms in 29 chondrosarcoma specimens obtained from 23 patients. Extensive genetic aberrations, with a mean of 6 changes per tumor (range, 1 to 24), were detected in 21 of the 29 samples analyzed (72%). The majority of these changes were gains of whole chromosomes or whole chromosome arms. Gains of DNA sequence copy number were most frequent at 20q (38%), 17p (38%), 20p (31%), 1cen-q24 (28%), and 14q23-qter (28%). High-level amplifications of small chromosome regions were sporadic, detected in only 17% of the samples. The only recurrent high-level amplification, seen in two tumors (7%), affected the minimal common region 12cen-q15. Other amplifications, each encountered only once, involved 1p33-p35, 2p23-pter, 4p, 6p22-pter, 18q12-q22, 19p13.2, 19q13.2, and 20q13.1. Losses of DNA sequences were rare and were most commonly observed at 6cen-q22 (17%) and 9p (17%).
采用比较基因组杂交技术，对来自23例患者的29份软骨肉瘤标本的所有染色体臂上DNA序列的未知增减情况进行研究。在分析的29个样本中的21个（72%）检测到广泛的基因畸变，每个肿瘤平均有6处改变（范围为1至24处）。这些改变大多是整条染色体或整条染色体臂的增加。DNA序列拷贝数增加最常见于20q（38%）、17p（38%）、20p（31%）、1cen-q24（28%）和14q23-qter（28%）。小染色体区域的高水平扩增较为散在，仅在17%的样本中检测到。唯一的复发性高水平扩增见于两个肿瘤（7%），影响最小共同区域12cen-q15。其他扩增仅各出现一次，涉及1p33-p35、2p23-pter、4p、6p22-pter、18q12-q22、19p13.2、19q13.2和20q13.1。DNA序列缺失很少见，最常见于6cen-q22（17%）和9p（17%）。
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