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恶性星形细胞瘤中的TP53突变

TP53 mutations in malignant astrocytomas.

作者信息

Biernat W, Debiec-Rychter M, Kordek R, Liberski P P

机构信息

Laboratories of Tumor Biology, Chair of Oncology, University Medical School, Lódź.

出版信息

Pol J Pathol. 1997;48(4):221-4.

PMID:9529927
Abstract

Astrocytomas are the most common tumors of the central nervous system (CNS). Their malignant counterparts, anaplastic astrocytoma and glioblastoma, are lethal neoplasms with poor clinical outcome and they frequently carry mutations of TP53 tumor suppressor gene. In order to determine the frequency and type of this molecular alteration in the Polish population, we analyzed the polymerase chain reaction products corresponding to the most conservative exons 5-8 for single-strand conformation polymorphism and confirmed the presence of mutations by direct DNA sequencing. We identified mutations in one of five (20%) anaplastic astrocytomas and in eight of 28 (29%) glioblastomas; the mutations were most frequently identified in the exon 8 (six glioblastomas). The frequency of TP53 mutations is thus similar to the corresponding data from other studies, and the type of mutations suggests the participation of endogenous etiological factor.

摘要

星形细胞瘤是中枢神经系统(CNS)最常见的肿瘤。其恶性对应物,间变性星形细胞瘤和胶质母细胞瘤,是具有不良临床预后的致死性肿瘤,并且它们经常携带TP53肿瘤抑制基因的突变。为了确定波兰人群中这种分子改变的频率和类型,我们分析了与最保守的外显子5 - 8相对应的聚合酶链反应产物的单链构象多态性,并通过直接DNA测序确认了突变的存在。我们在5例间变性星形细胞瘤中的1例(20%)以及28例胶质母细胞瘤中的8例(29%)中鉴定出突变;这些突变最常在外显子8中被鉴定到(6例胶质母细胞瘤)。因此,TP53突变的频率与其他研究的相应数据相似,并且突变类型提示内源性病因因素的参与。

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