Department of Genetics, Institute of Biosciences, UNESP, São Paulo State University, Botucatu, SP, Brazil.
Hum Reprod. 2012 Nov;27(11):3187-97. doi: 10.1093/humrep/des282. Epub 2012 Aug 30.
Endometriosis is a multifactorial gynecological disease characterized by the presence of functional endometrium-like tissue in ectopic sites. Several studies have focused on elucidating the immunological, endocrine, environmental and genetic factors involved in endometriosis. However, its pathogenesis is still unclear.
High-resolution comparative genomic hybridization was applied to screen for genomic imbalances in laser microdissected stromal and epithelial cells from 20 endometriotic lesions and three samples of eutopic endometrium derived from eight patients. The expression of seven stemness-related markers (CD9, CD13, CD24, CD34, CD133, CD117/c-Kit and Oct-4) in endometrial tissue samples was evaluated by immunohistochemistry.
Samples of eutopic endometrium showed normal genomic profiles. In ectopic tissues, an average of 68 genomic imbalances was detected per sample. DNA losses were more frequently detected and involved mainly 3p, 5q, 7p, 9p, 11q, 16q, 18q and 19q. Many of the genomic imbalances detected were common to endometriotic stroma and epithelia and also among different endometriotic sites from the same patient. These findings suggested a clonal origin of the endometriotic cells and the putative involvement of stem cells. Positive immunostaining for CD9, CD34, c-Kit and Oct-4 markers was detected in isolated epithelial and/or stromal cells in eutopic and ectopic endometrium in the majority of cases.
The presence of shared genomic alterations in stromal and epithelial cells from different anatomical sites of the same patient and the expression of stemness-related markers suggested that endometriosis arises as a clonal proliferation with the putative involvement of stem cells.
子宫内膜异位症是一种多因素的妇科疾病，其特征是在异位部位存在功能性子宫内膜样组织。许多研究集中在阐明与子宫内膜异位症相关的免疫、内分泌、环境和遗传因素。然而，其发病机制尚不清楚。
应用高分辨率比较基因组杂交技术对 20 例子宫内膜异位症病变和 8 例患者的 3 份在位子宫内膜组织中激光微切割的基质和上皮细胞进行基因组失衡筛选。采用免疫组织化学法检测子宫内膜组织样本中 7 个干细胞相关标志物（CD9、CD13、CD24、CD34、CD133、CD117/c-Kit 和 Oct-4）的表达。
在位子宫内膜组织样本显示正常的基因组图谱。在异位组织中，每个样本平均检测到 68 个基因组失衡。更多地检测到 DNA 缺失，主要涉及 3p、5q、7p、9p、11q、16q、18q 和 19q。检测到的许多基因组失衡在子宫内膜异位症的基质和上皮中是共同的，并且在同一患者的不同子宫内膜异位症部位之间也是共同的。这些发现提示子宫内膜异位症细胞具有克隆起源，并且可能涉及干细胞。在大多数情况下，在在位和异位子宫内膜的分离上皮和/或基质细胞中检测到 CD9、CD34、c-Kit 和 Oct-4 标志物的阳性免疫染色。
同一患者不同解剖部位的基质和上皮细胞中存在共同的基因组改变，以及干细胞相关标志物的表达，提示子宫内膜异位症是一种克隆性增殖，可能涉及干细胞。
