Kawakami Takahiro, Okamoto Keisei, Ogawa Osamu, Okada Yusaku
Department of Urology, Shiga University of Medical Science, Otsu, 520-2192, Shiga, Japan.
Lancet. 2004 Jan 3;363(9402):40-2. doi: 10.1016/S0140-6736(03)15170-7.
Testicular germ-cell tumours (TGCTs) are the most common malignant diseases among men aged 20-40 years. We developed a DNA tumour marker for TGCTs based on the unmethylated DNA profile of a neoplasm. The 5' end of the XIST gene is mainly hypomethylated in TGCTs irrespective of XIST expression. Male somatic cells, however, show complete methylation through the CpG sites, including the minimum promoter and XIST-conserved repeats. Identification of a XIST unmethylated fragment in male plasma might be diagnostic for TGCTs.
睾丸生殖细胞肿瘤（TGCTs）是20至40岁男性中最常见的恶性疾病。我们基于肿瘤的未甲基化DNA图谱开发了一种用于TGCTs的DNA肿瘤标志物。无论XIST基因的表达如何，XIST基因的5'端在TGCTs中主要是低甲基化的。然而，男性体细胞通过包括最小启动子和XIST保守重复序列在内的CpG位点显示出完全甲基化。在男性血浆中鉴定出XIST未甲基化片段可能对TGCTs具有诊断意义。
