性腺母细胞瘤的分子遗传机制研究进展

doi:10.16288/j.yczz.15-124

遗传 ›› 2015, Vol. 37 ›› Issue (11): 1105-1115.doi: 10.16288/j.yczz.15-124

性腺母细胞瘤的分子遗传机制研究进展

余莉莉¹,董琬如^1,2,陈明会¹,孔祥阳¹

1. 昆明理工大学医学院疾病和药物遗传学实验室,昆明 650500;
2. 昆明理工大学生命科学与技术学院,昆明 650500

收稿日期:2015-03-25 修回日期:2015-07-24 出版日期:2015-11-20 发布日期:2015-08-07
通讯作者: 孔祥阳,博士,教授,研究方向：疾病和药物遗传学。 E-mail: kxy02@kmust.edu.cn E-mail:yonily6@163.com
作者简介:余莉莉,硕士研究生,专业方向：遗传学。 E-mail: yonily6@163.com

Progress in the molecular genetic mechanism of gonadoblastoma

Lili Yu¹,Wanru Dong^1,2,Minghui Chen¹,Xiangyang Kong¹

1. Department of Medical Genetics and Pharmacogenomics, Faculty of Medicine, Kunming University of Science and Technology, Kunming 650500, China;
2. College of Life Science and Technology ,Faculty of Medicine, Kunming University of Science and Technology, Kunming 650500, China

Received:2015-03-25 Revised:2015-07-24 Online:2015-11-20 Published:2015-08-07

摘要/Abstract

摘要： 性腺母细胞瘤(Gonadoblastoma, GB)是一种由性索和生殖细胞演化而来的罕见原位性腺肿瘤,与性腺遗传物质异常有密切联系。80%的GB患者表现为46,XY女性表型,其余为45,XY 和46,XX性别发育异常患者等。35%的GB会进一步演化为无性细胞瘤和精原细胞瘤等恶性肿瘤。由于表型与遗传的异质性,GB的分子遗传机制还未完全揭示。越来越多的研究显示GB的发生与性别分化和决定调控基因(如SRY、WT1、SOX9、Foxl2和TSPY等)之间存在密切关联,且表现出遗传与表观遗传调控相互作用。本文综述了GB的临床表现、病理特征、诊断与治疗措施,总结了性腺遗传异常导致GB的分子遗传与表观遗传调控机制,分析并归纳参与GB形成相关基因的共同表达调控网络,指出了当前研究中的障碍与不足,为进一步研究GB致病分子机制提供新思路。

关键词: 性腺母细胞瘤, 性别发育异常, 生殖系统异常, 基因调控网络, 表观遗传异常

Abstract: Gonadoblastoma (GB), a rare in situ germ cell tumor derived from sex cord and germ cells, is closely associated with gonadal dysgenesis. About 80% of GB individuals exhibit 46, XY female phenotype while the others are 45, XY and 46, XX with disorders of sex development. Moreover, 35% of GB can eventually develop into malignant tumors, such as seminoma and dysgerminoma tumors. The molecular genetic mechanism of GB remains to be fully uncovered due to phenotypic and genetic heterogeneity. Increasing studies show that the formation of GB is closely related to genes regulating sexual differentiation and determination (e.g., SRY, WT1, SOX9, Foxl2, TSPY, etc), and is affected by the interaction of genetic and epigenetic regulation. Here we describe the clinical and pathological features, diagnosis and treatment of GB, and also summarize the molecular genetic and epigenetic mechanisms underlying the gonadal abnormalities that lead to GB. We analyze and construct the common gene regulatory networks related to the development of GB, and describe some obstacles and deficiencies in current studies to provide innovative perspectives on further studying the pathological and molecular mechanisms of GB.

Key words: gonadoblastoma, disorders of sex development, gonadal abnormalities, gene regulatory network, epigenetic regulation

余莉莉,董琬如,陈明会,孔祥阳. 性腺母细胞瘤的分子遗传机制研究进展[J]. 遗传, 2015, 37(11): 1105-1115.

Lili Yu,Wanru Dong,Minghui Chen,Xiangyang Kong. Progress in the molecular genetic mechanism of gonadoblastoma[J]. HEREDITAS(Beijing), 2015, 37(11): 1105-1115.

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性腺母细胞瘤的分子遗传机制研究进展

Progress in the molecular genetic mechanism of gonadoblastoma

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