性腺母细胞瘤的分子遗传机制研究进展

doi:10.16288/j.yczz.15-124

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

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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

Abstract

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

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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