Somerville R P, Shoshan Y, Eng C, Barnett G, Miller D, Cowell J K
Department of Neurosciences, The Lerner Research Institute, Cleveland Clinic Foundation, Ohio 44195, USA.
Oncogene. 1998 Oct 1;17(13):1755-7. doi: 10.1038/sj.onc.1202066.
The transition from low grade astrocytoma to glioblastoma multiforme is almost always accompanied by the loss of genetic markers from chromosome 10. Recently two genes, PTEN/MMAC1/TEP1 and DMBT, have been isolated from chromosome 10q. We have analysed these two genes for mutations in 21 primary glioblastomas. An exon by exon screen of the PTEN gene using SSCP failed to identify any mutations in this tumour series. In contrast, 38% of tumours showed intragenic homozygous deletions in the DMBT gene. The fact that the majority of gliomas do not carry mutations in either of these genes suggests that there may still be other genes on chromosome 10 which are important in the development of glioblastoma multiforme.
低级别星形细胞瘤向多形性胶质母细胞瘤的转变几乎总是伴随着10号染色体遗传标记的缺失。最近,两个基因PTEN/MMAC1/TEP1和DMBT已从10q染色体上分离出来。我们分析了这两个基因在21例原发性胶质母细胞瘤中的突变情况。使用单链构象多态性(SSCP)对PTEN基因进行逐个外显子筛查,未能在该肿瘤系列中鉴定出任何突变。相比之下,38%的肿瘤在DMBT基因中显示基因内纯合缺失。大多数胶质瘤在这两个基因中均未发生突变,这一事实表明10号染色体上可能仍存在其他对多形性胶质母细胞瘤的发生发展至关重要的基因。