首页> 外文期刊>Brain pathology >Homozygous deletions of the CDKN2C/p18INK4C gene on the short arm of chromosome 1 in anaplastic oligodendrogliomas.
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Homozygous deletions of the CDKN2C/p18INK4C gene on the short arm of chromosome 1 in anaplastic oligodendrogliomas.

机译:间变性少突胶质细胞瘤中1号染色体短臂上CDKN2C / p18INK4C基因的纯合缺失。

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摘要

Allelic deletions of the short arm of chromosome 1 are common in oligodendrogliomas and have been correlated with chemosensitivity and better prognosis in patients with high-grade oligodendrogliomas. In these tumors, 1p loss is also inversely related to deletions of the CDKN2A gene on 9p, which encodes the key cell cycle regulatory molecule p16INK4A. Because the CDKN2C gene, which encodes the homologous p18INK4C cell cycle regulatory protein, maps to chromosomal band 1p32, CDKN2C is an attractive candidate for the oligodendroglioma suppressor gene on chromosome 1. To evaluate this possibility, we studied 39 high-grade oligodendrogliomas for homozygous deletions and point mutations of the CDKN2C gene, as well as for allelic loss of 1p. Although no mutations were detected in the CDKN2C coding region, two tumors had homozygous deletions that involved CDKN2C. Interestingly, these cases did not have CDKN2A gene deletions. Coupled with the recent report of rare point mutations of CDKN2C in oligodendrogliomas, these findings suggest that CDKN2C inactivation may be oncogenic in a small percentage of human oligodendrogliomas.
机译:1号染色体短臂的等位基因缺失在少突胶质细胞瘤中很常见,并且与化学敏感性和高级少突胶质细胞瘤患者的更好预后相关。在这些肿瘤中,1p丢失也与9p上CDKN2A基因的缺失成反比,该基因编码关键的细胞周期调控分子p16INK4A。因为编码同源p18INK4C细胞周期调节蛋白的CDKN2C基因映射到染色体带1p32,所以CDKN2C是1号染色体上少突胶质细胞瘤抑制基因的诱人候选物。为了评估这种可能性,我们研究了39种高纯性少突胶质细胞瘤的纯合缺失。和CDKN2C基因的点突变,以及等位基因的1p缺失。尽管在CDKN2C编码区未检测到突变,但有两个肿瘤具有涉及CDKN2C的纯合缺失。有趣的是,这些病例没有CDKN2A基因缺失。连同最近报道的少突胶质细胞瘤中CDKN2C的稀有点突变的报道,这些发现表明CDKN2C失活可能是一小部分人少突胶质细胞瘤的致癌作用。

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