Kramar Filip, Zemanova Zuzana, Michalova Kyra, Babicka Libuse, Ransdorfova Sarka, Hrabal Petr, Kozler Petr
Department of Neurosurgery, 1st Faculty of Medicine, Charles University and Central Military Hospital, Prague 16902, Czech Republic.
J Neurooncol. 2007 Sep;84(2):201-11. doi: 10.1007/s11060-007-9358-7. Epub 2007 Jun 14.
Specific gene mutations, loss of heterozygosity, deletions and/or amplifications of entire chromosomal regions and gene silencing have been described in gliomas. 82 samples from 81 patients were investigated to detect the deletion of TP53, RB1, CDKN2A genes, deletion of 1p36 and 19q13.3 region, amplification of EGFR gene, trisomy of chromosome 7 and monosomy of chromosome 10 in glial cells. Dual-colour interphase fluorescence in situ hybridization (I-FISH) with locus-specific and/or chromosome enumeration DNA probes were used for cytogenetic analyses. In the study, molecular cytogenetic analyses were successfully performed in 74 patients (91.3%) and were uninformative in 7 only (8.7%). The cytogenetic analyses were correlated with morphological data and clinical outcome. I-FISH was the essential part of diagnostics. In comparison with the clinical data, the patients' age seems to be a factor more important for the overall survival, rather than cytogenetic findings in glial tumours. The combined deletion of 1p36 and 19q13.3 chromosomal regions predicts longer overall survival for patients with oligodendroglial tumours.
在胶质瘤中已发现特定基因突变、杂合性缺失、整个染色体区域的缺失和/或扩增以及基因沉默。对81例患者的82份样本进行研究，以检测神经胶质细胞中TP53、RB1、CDKN2A基因的缺失，1p36和19q13.3区域的缺失，EGFR基因的扩增，7号染色体三体性和10号染色体单体性。采用位点特异性和/或染色体计数DNA探针的双色间期荧光原位杂交（I-FISH）进行细胞遗传学分析。在该研究中，74例患者（91.3%）成功进行了分子细胞遗传学分析，仅7例（8.7%）结果无信息价值。细胞遗传学分析与形态学数据及临床结果相关。I-FISH是诊断的重要组成部分。与临床数据相比，患者年龄似乎是影响总生存期的更重要因素，而非神经胶质肿瘤的细胞遗传学结果。1p36和19q13.3染色体区域的联合缺失预示着少突胶质细胞瘤患者的总生存期更长。
