脑节细胞性胶质瘤的分子遗传学研究

目的通过研究脑节细胞性胶质瘤全基因组的遗传学改变,探讨该肿瘤的发病机制。方法应用比较基因组杂交技术,分析脑节细胞性胶质瘤全基因组的遗传学改变。结果收集脑节细胞性胶质瘤5例,男性3例,女性2例。其中,3例肿瘤发现有9号染色体短臂(9p)的丢失,2例有7号染色体的获得,该结果通过荧光原位杂交(FISH)技术得到了进一步的证实。应用免疫组织化学(ABC法)染色,位于染色体7p11-p13上的癌基因表皮生长因子受体(EGFR)在所有5例节细胞性胶质瘤中都无异常表达。此外,在染色体2q33-q34,8q12-q22,14q21-qter,15q26-citer和Y上也都发现了遗传物质的丢失或扩增。结论染色体9p的丢失及7号染色体的获得可能与脑节细胞性胶质瘤的发病机制有关。

Molecular genetic studies on ganglioglioma

Objective To study the genetic alterations of ganglioglioma through the entire genome, and to investigate the pathogenesis of this neoplasm. Methods Comparative genomic hybridization was used to provide an overview of genetic abnormalities in gangliogliomas. Results Five cases of gangliogliomas, including 3 males and 2 females, were studied genetically. Loss of genetic materials on the short arm of chromosome 9(9p) was a common genetic alteration found in 3 of 5 cases. Overrepresentation of chromosome 7 was another recurrent chromosomal imbalance,which was further confirmed by fluorescence in situ hybridization. Immunohistochemical analysis was performed on epidermal growth factor receptor (EGFR), which was located on 7p11-p13. All five cases revealed no abnormal expression of EGFR. On the other hand, genetic imbalances were also involved in multiple chromosomes including 2q33-q34, 8q12-q22, 14q21-qter,15q26-qter and Y. Conclusion Loss of genetic materials on chromosome 9p and gain on chromosome 7 may be associated with the pathogenesis of this neoplasm.