睾丸生殖细胞肿瘤中频繁的p16INK4（MTS1）基因失活。
Frequent p16INK4 (MTS1) gene inactivation in testicular germ cell tumors.
作者信息
Chaubert P, Guillou L, Kurt A M, Bertholet M M, Metthez G, Leisinger H J, Bosman F, Shaw P
机构信息
Institut Universitaire de Pathologie, CHUV, Lausanne, Switzerland.
出版信息
Am J Pathol. 1997 Sep;151(3):859-65.
The molecular mechanisms responsible for the development of testicular germ cell tumors (GCTs) have not as yet been elucidated. The aim of the present study was to determine whether genetic alterations of p16INK4 (MTS1) and/or cyclin-dependent kinase 4 (CDK4) occur in the genesis of these tumors. We have analyzed these two genes in 29 testicular GCTs, seminomas, and nonseminomas. None of the tumors showed either p16INK4 or CDK4 mutations. Only 1 of the 29 GCTs displayed loss of heterozygosity of the p16INK4 gene. No homozygous deletions of p16INK4 were detected. Evidence of hypermethylation of p16INK4 exon 1, however, was demonstrated in 13 of the 26 (50%) GCTs analyzed. Tumor samples having exon 1 of p16INK4 methylated expressed significantly lower levels of p16INK4 mRNA, as analyzed by reverse transcriptase polymerase chain reaction. These results suggest that p16INK4 inactivation plays a role in the genesis of GCTs.
睾丸生殖细胞肿瘤（GCTs）发生发展的分子机制尚未阐明。本研究的目的是确定p16INK4（MTS1）和/或细胞周期蛋白依赖性激酶4（CDK4）的基因改变是否发生在这些肿瘤的发生过程中。我们分析了29例睾丸GCTs、精原细胞瘤和非精原细胞瘤中的这两个基因。所有肿瘤均未显示p16INK4或CDK4突变。29例GCTs中仅1例显示p16INK4基因杂合性缺失。未检测到p16INK4的纯合缺失。然而，在分析的26例（50%）GCTs中的13例中证实了p16INK4外显子1的高甲基化证据。通过逆转录聚合酶链反应分析，p16INK4外显子1甲基化的肿瘤样本表达的p16INK4 mRNA水平显著降低。这些结果表明p16INK4失活在GCTs的发生中起作用。
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