Endometriosis: a new cellular and molecular genetic approach for understanding the pathogenesis and evolutivity
Endometriosis: a new cellular and molecular genetic approach for understanding the pathogenesis and evolutivity
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DOI：
10.3389/fsurg.2014.00016
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发表时间：
2014-01-01
影响因子：
1.8
通讯作者：
Feki, Anis
中科院分区：
文献类型：
--
作者：
De Joliniere, Jean Bouquet;Ayoubi, Jean Marc Bernard;Feki, Anis
子宫内膜异位症是一种良性疾病，在育龄妇女中发病率很高，估计在10%至15%之间，发病率很高。其病因和发病机制存在争议，但据信涉及多种遗传、环境、免疫、血管生成和内分泌过程。生长因子、细胞因子、粘附分子、基质金属蛋白酶以及雌激素合成和代谢酶的表达在这种情况下经常被观察到。在家族性疾病的研究中证明了子宫内膜异位症的遗传基础的可能性，其中先证者的一级亲属的子宫内膜异位症的发病率高于对照组。本文主要介绍子宫内膜异位症病变和培养的子宫内膜异位症细胞的细胞、细胞化学、细胞遗传学和分子遗传学特征。为了确定参与子宫内膜异位症发病机制的候选基因，采用了基于组织的方法，包括常规细胞遗传学（rhg -band）、杂合性缺失（LOH）和比较基因组杂交（CGH）。除了核型异常外，CGH和荧光原位杂交（FISH）证实了一致的染色体不稳定性。本文将讨论与致癌基因和肿瘤抑制基因的位置和功能有关的分子遗传畸变的性质和意义。最后，对7例子宫内膜异位症女性胎儿生殖道中胚胎导管残余可能的致病作用进行了观察，并对卵巢肿瘤的发生和恶性增殖进行了探讨。
Endometriosis is a benign disease with high prevalence in women of reproductive age estimated between 10 and 15% and is associated with considerable morbidity. Its etiology and pathogenesis are controversial but it is believed to involve multiple genetic, environmental, immunological, angiogenic, and endocrine processes. Altered expressions of growth factors, cytokines, adhesion molecules, matrix metalloproteinases, and enzymes for estrogen synthesis and metabolism have been frequently observed in this condition. The possibility of genetic basis of endometriosis is demonstrated in studies of familial disease, in which the incidence of endometriosis is higher for first-degree relatives of probands as compared to controls. This review describes mainly the cellular, cytochemical, cytogenetic, and molecular genetic features of endometriotic lesions and cultured endometriotic cells. In attempts to identify candidate gene (s) involved in the pathogenesis of endometriosis, a tissue-based approaches including conventional cytogenetics (RHG-banding), loss of heterozygosity (LOH), and comparative genomic hybridization (CGH) were employed. In addition to the karyotypic anomalies, consistent chromosome instability was confirmed by CGH and fluorescence in situ hybridization (FISH). The nature and significance of the molecular genetic aberrations in relation to the locations and function of oncogenes and tumor suppressor genes will be discussed. At last, a possible pathogenic role of embryonic duct remnants was observed in seven female fetal reproductive tract in endometriosis and may induce a discussion about the beginning of ovarian tumors and malignant proliferations.