国际妇产科学杂志

国际妇产科学杂志 ›› 2015, Vol. 42 ›› Issue (3): 256-259.

• 综述 • 上一篇    下一篇

ARID1A基因在卵巢透明细胞癌发生中的作用

朱珏，张可，马胜林   

  1. 310006 杭州，杭州市第一人民医院
  • 收稿日期:1900-01-01 修回日期:1900-01-01 出版日期:2015-06-15 发布日期:2015-06-15
  • 通讯作者: 马胜林

Effects of ARID1A Gene in Ovarian Clear Cell Carcinoma

ZHU Jue，ZHANG Ke，MA Sheng-lin   

  1. Hangzhou First People′s Hospital，Hangzhou 310006，China
  • Received:1900-01-01 Revised:1900-01-01 Published:2015-06-15 Online:2015-06-15
  • Contact: MA Sheng-lin

PDF (PC)

5455

摘要： 卵巢透明细胞癌（ovarian clear cell carcinoma，OCCC）是卵巢上皮性癌中一种特殊的组织学类型，约占卵巢上皮性癌的5%~25%。早期的OCCC预后较好，并且部分患者不需辅助治疗，但该肿瘤晚期对传统的化疗方案不敏感，预后不良。OCCC的发生与子宫内膜异位症密切相关。最近研究显示参与染色体重构的抑癌基因——AT丰富结合域1A基因（the AT-rich interactive domain 1A，ARID1A）与OCCC的病理发生有关。研究发现子宫内膜异位症损害的部位常存在该基因的突变。ARID1A基因表达的蛋白是酵母交换型转换/蔗糖不发酵（SWI/SNF）的亚基之一，参与DNA的复制、转录、修复、重组，抑制细胞增殖及肿瘤生长。ARID1A基因突变在妇科肿瘤中最为常见，在OCCC所占比例最高（46%~57%）。突变型ARID1A通过磷脂酰肌醇激酶3催化亚单位α基因（PI3KCA）突变、抑制蛋白酪氨酸磷酸酶（PTEN）活性，上调磷脂酰肌醇激酶3/蛋白激酶B（PI3K/Akt）通路，并促进血管生成，同时也作用于人类表皮生长因子受体2（HER2），引起凋亡及错配修复缺陷。在OCCC中深入全面的研究ARID1A基因，为OCCC的早期诊断及确定有效的介入治疗的分子靶点提供基础。综述ARID1A基因在OCCC发生中的作用。

关键词: 卵巢肿瘤, 腺癌, 透明细胞, 突变, ARID1A

Abstract: Ovarian clear cell carcinoma（OCCC） is a special histological type in epithelial ovarian cancers（EOC）. The incidence of OCCC is about 5 to 25 percent of EOC. In early stage，OCCC often has better prognosis，furthermore，some patients do not need secondary treatment. But the advanced stage often has poor prognosis，as to its insensitive to conventional chemotherapy. OCCC is closely related to the occurrence of endometriosis. Recent studies have shown that tumor suppressor genes involved in chromatin remodeling-AT-rich binding domain 1A gene（ARID1A） is related to the pathogenesis of OCCC. ARID1A protein is a subunit of SWI/SNF complex, which plays important roles in replication，transcription, repair, and restruction of DNA, inhibits cell proliferation and tumor growth. Mutations of ARID1A are often seen in gynecologic cancers, especially in OCCC （46%-57%）. Mutations of ARID1A arise apoptosis and mismatch repair defects, through upregulation of the PI3K/Akt pathway, particularly through mutations of PI3KCA and inactivation of PTEN, and also which can enhance the activity of pathways involved in angiogenesis and have impact on HER2. The depth and comprehensive study of ARID1A gene can provide a basis for earlier diagnosis and effective intervention molecular target therapy. This article is about the role of ARID1A gene in OCCC.

Key words: Ovarian neoplasms, Adenocarcinoma, clear cell, Mutation, ARID1A