多形性胶质母细胞瘤中PTEN的体细胞突变
Somatic mutations of PTEN in glioblastoma multiforme.
作者信息
Wang S I, Puc J, Li J, Bruce J N, Cairns P, Sidransky D, Parsons R
机构信息
Department of Pathology and Medicine, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
出版信息
Cancer Res. 1997 Oct 1;57(19):4183-6.
Alterations of the PTEN gene occur in glioblastoma multiforme. To determine the frequency of PTEN alteration, 34 consecutive glioblastomas were studied in detail. Sequencing each of the nine exons amplified from tumor DNA revealed 11 mutations. Analysis of polymorphic markers within and surrounding the PTEN gene identified an additional four homozygous deletion mutations. Loss of heterozygosity (LOH) was observed in 25 of 34 (74%) cases. All mutations occurred in the presence of LOH. PTEN was mutated in 44% (15 of 34) of all glioblastomas studied and 60% (15 of 25) of tumors with LOH on 10q. Thus, PTEN appears to be the major target of inactivation on chromosome 10q in glioblastoma multiforme.
多形性胶质母细胞瘤中存在PTEN基因改变。为确定PTEN改变的频率，对34例连续的胶质母细胞瘤进行了详细研究。对从肿瘤DNA扩增的9个外显子逐一测序发现了11个突变。对PTEN基因内部及周围的多态性标记进行分析，又鉴定出另外4个纯合缺失突变。在34例中的25例（74%）病例中观察到杂合性缺失（LOH）。所有突变均发生在存在LOH的情况下。在所研究的所有胶质母细胞瘤中，44%（34例中的15例）发生了PTEN突变，在10q存在LOH的肿瘤中，60%（25例中的15例）发生了PTEN突变。因此，PTEN似乎是多形性胶质母细胞瘤中10q染色体失活的主要靶点。
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