CAJ | 학술논문

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。
성선모세포류(Gonadoblastoma, GB)시일충유성색화생식세포연화이래적한견원위성선종류，여성선유전물질이상유밀절련계。80%적GB환자표현위46，XY녀성표형，기여위45，XY 화46，XX성별발육이상환자등。35%적 GB 회진일보연화위무성세포류화정원세포류등악성종류。유우표형여유전적이질성，GB 적분자유전궤제환미완전게시。월래월다적연구현시GB적발생여성별분화화결정조공기인(여SRY、WT1、SOX9、Foxl2화 TSPY등)지간존재밀절관련，차표현출유전여표관유전조공상호작용。본문종술료 GB적림상표현、병리특정、진단여치료조시，총결료성선유전이상도치GB적분자유전여표관유전조공궤제，분석병귀납삼여GB 형성상관기인적공동표체조공망락，지출료당전연구중적장애여불족，위진일보연구 GB치병분자궤제제공신사로。
Gonadoblastoma (GB), a rarein 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 malig-nant 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 patho-logical 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.