睾丸生殖细胞肿瘤中表观遗传学和分子标志物的最新进展。
An up-date on epigenetic and molecular markers in testicular germ cell tumors.
作者信息
Chieffi Paolo
机构信息
Dipartimento di Psicologia, Università della Campania, Caserta, Italy.
出版信息
Intractable Rare Dis Res. 2017 Nov;6(4):319-321. doi: 10.5582/irdr.2017.01070.
Abstract
Testicular germ cell tumor (TGCT) is the most common solid malignancy occurring in young men between 20 and 34 years of age, and its incidence has increased significantly over the last decades. Clinically several types of immunohistochemical markers are useful and sensitive. These new biomarkers are genes expressed in primordial germ cells/gonocytes and embryonic pluripotency-related cells but not in normal adult germ cells and they include OCT3/4, HMGA1 and 2, NANOG, SOX2, and LIN28. Gene expression in TGCT is regulated, at least in part, by DNA and histone modifications, and the epigenetic profile of these tumours is characterised by genome-wide demethylation. There are different epigenetic modifications in TGCT subtypes that reflect the normal developmental switch in primordial germ cells from an under to normally methylated genome.
摘要
睾丸生殖细胞肿瘤（TGCT）是20至34岁年轻男性中最常见的实体恶性肿瘤，在过去几十年中其发病率显著上升。临床上，几种免疫组化标志物既有用又敏感。这些新的生物标志物是在原始生殖细胞/生殖母细胞和胚胎多能性相关细胞中表达但在正常成年生殖细胞中不表达的基因，它们包括OCT3/4、HMGA1和2、NANOG、SOX2以及LIN28。TGCT中的基因表达至少部分受DNA和组蛋白修饰调控，这些肿瘤的表观遗传特征是全基因组去甲基化。TGCT亚型存在不同的表观遗传修饰，这反映了原始生殖细胞中从低甲基化基因组到正常甲基化基因组的正常发育转变。
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