文章：

从更广泛的角度看睾丸生殖细胞肿瘤

Testicular germ-cell tumours in a broader perspective

原文发布日期：2005-03-01

DOI: 10.1038/nrc1568

类型: Review Article

开放获取: 否

要点：

1. Germ-cell tumours (GCTs) of all anatomical sites can be classified into five groups, characterized by their chromosomal complement and developmental potential.
2. The most significant recurrent chromosomal aberrations in type I yolk-sac tumours are loss of 1p, 4 and 6q, and gain of 1q, 12(p13) and 20q. In type II seminomas and non-seminomatous GCTs, the most significant recurrent chromosomal aberrations are gain of 7, 8, 12p, 21 and X, and loss of chromosomes 1p, 11, 13 and 18. Aberrations of 12p are the only recurrent structural abnormalities in type II GCTs. In type III spermatocytic seminomas, gain of chromosome 9 is most common.
3. The originating cell is most probably a primitive germ cell of which the developmental potential differs according to its stage of maturation and pattern of genomic imprinting.
4. Animal models are available for the different groups of GCTs, except for the type II seminomas and non-seminomatous GCTs.
5. An activating KIT mutation in codon 816 is an early pathogenetic event in bilateral testicular seminomas and non-seminomatous GCTs.
6. The transcription factor OCT3/4, a characteristic of primordial germ cells and pluripotent stem cells, is a new and robust diagnostic marker for type II seminomas and non-seminomatous GCTs, including their intratubular precursor.
7. Treatment sensitivity and resistance of GCTs probably correlates with retention and loss of embryonic characteristics (in particular, DNA-repair deficiency), respectively.

要点翻译：

1. 所有解剖部位的生殖细胞肿瘤（GCTs）可根据其染色体组成和发育潜能分为五类。
2. I型卵黄囊瘤中最显著的复发性染色体异常包括1p、4号和6q缺失，以及1q、12(p13)和20q获得。II型精原细胞瘤和非精原细胞性GCTs中最显著的复发性染色体异常包括7号、8号、12p、21号和X染色体获得，以及1p、11号、13号和18号染色体缺失。12p异常是II型GCTs中唯一的复发性结构异常。III型精母细胞性精原细胞瘤最常见的是9号染色体获得。
3. 起源细胞很可能是一种原始生殖细胞，其发育潜能因成熟阶段和基因组印记模式而异。
4. 除II型精原细胞瘤和非精原细胞性GCTs外，其他各类GCTs均有相应的动物模型。
5. 密码子816的KIT激活突变是双侧睾丸精原细胞瘤和非精原细胞性GCTs的早期致病事件。
6. 转录因子OCT3/4作为原始生殖细胞和多能干细胞的标志物，是诊断II型精原细胞瘤和非精原细胞性GCTs（包括其小管内前驱病变）的新型可靠标志物。
7. GCTs的治疗敏感性和耐药性可能分别与胚胎特性的保留（特别是DNA修复缺陷）和缺失相关。

英文摘要：

The germ-cell tumours are a fascinating group of neoplasms because of their unusual biology and the spectacular therapeutic results that have been obtained in these tumours. Traditionally, this group of neoplasms is presented in an organ-oriented approach. However, recent clinical and experimental data convincingly demonstrate that these neoplasms are one disease with separate entities that can manifest themselves in different anatomical sites. We propose five entities, in which the developmental potential is determined by the maturation stage and imprinting status of the originating germ cell. Recent progress begins to explain the apparent unpredictable development of germ-cell tumours and offers a basis for understanding their exquisite sensitivity to therapy.

摘要翻译： 

生殖细胞肿瘤是一类令人着迷的肿瘤，因其独特的生物学特性以及在这些肿瘤中取得的显著治疗效果。传统上，这类肿瘤是按器官导向的方式进行介绍的。然而，最近的临床和实验数据有力地证明，这些肿瘤实际上是一种疾病，包含不同的亚型，可在不同的解剖部位表现出来。我们提出了五种亚型，其发育潜能由起源生殖细胞的成熟阶段和印记状态决定。最新进展开始解释生殖细胞肿瘤看似不可预测的发展，并为其对治疗的高度敏感性提供了理解基础。

原文链接：

Testicular germ-cell tumours in a broader perspective