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中华普通外科学文献(电子版) ›› 2017, Vol. 11 ›› Issue (06) : 428 -432. doi: 10.3877/cma.j.issn.1674-0793.2017.06.017

所属专题: 文献

综述

胆管癌遗传学生物标志物的研究进展和应用前景
左宇志1, 曲强1,()   
  1. 1. 100730 中国医学科学院北京协和医院基本外科
  • 收稿日期:2017-07-15 出版日期:2017-12-01
  • 通信作者: 曲强
  • 基金资助:
    国家临床重点专科建设项目(2017)

Research advancement and application of genetic biomarkers of cholangiocarcinoma

Yuzhi Zuo1, Qiang Qu1,()   

  1. 1. Department of General Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China
  • Received:2017-07-15 Published:2017-12-01
  • Corresponding author: Qiang Qu
  • About author:
    Corresponding author: Qu Qiang, Email:
引用本文:

左宇志, 曲强. 胆管癌遗传学生物标志物的研究进展和应用前景[J]. 中华普通外科学文献(电子版), 2017, 11(06): 428-432.

Yuzhi Zuo, Qiang Qu. Research advancement and application of genetic biomarkers of cholangiocarcinoma[J]. Chinese Archives of General Surgery(Electronic Edition), 2017, 11(06): 428-432.

胆管癌是一种起源于胆管上皮细胞的罕见恶性肿瘤,近年来其发病率逐年上升。胆管癌因其发生、发展隐匿,症状及体征出现晚,常在疾病晚期才得以诊断。根治性手术切除是唯一可能治愈胆管癌的方法,但是临床上至少有1/3的患者在初次诊断时就已经失去手术机会。因此,临床上急需能够早期发现、早期诊断胆管癌的检测手段。肿瘤的生物标志物作为重要的临床指标,对肿瘤的早期诊断、治疗选择和预后判断均有重要意义。目前,胆管癌相关的生物标志物研究有新的进展,本文将从基因突变以及表观遗传改变等遗传学角度出发,归纳总结胆管癌相关肿瘤标志物的研究进展和临床应用。

Cholangiocarcinoma (CC) is a malignant tumor arising from the epithelium of the bile ducts. The prognosis of CC is poor due to the difficulty of early diagnosis and limited treatment methods. Radical surgical resection is the only curative treatment method, but about 33% of patients with cholangiocarcinoma have lost their opportunities for surgery at diagnosis. Early diagnosis and early therapy of CC is urgent in clinic. Therefore discovering suitable biomarkers has great significance. In this review, we summarize the research progression of genetic biomarkers of CC from the point of gene mutation and hereditary change.

表1 常见的胆管癌相关遗传学生物标志物及意义
功能或信号通路 基因 相关性 参考文献
酪氨酸激酶信号通路 SMAD4 可提示预后 [5]
FGFR2 提供靶向治疗位点 [10]
KRAS 与胆管癌局部浸润、淋巴结转移相关,可提示预后 [16, 17]
BRAF 提供靶向治疗位点 [40]
细胞周期 TP53 可能与肝吸虫感染所致胆管癌相关,可提示预后 [5, 7]
染色质重构 PBRM1 可提示预后以及提供靶向治疗位点 [12]
BAP1 与肿瘤复发、转移相关,可提示预后以及提供靶向治疗位点 [12, 15]
ARID1A 与胆管癌的管状腺癌病理类型相关,可提示预后以及提供靶向治疗位点 [12, 19, 20]
DNA甲基化 IDH1 可提示预后 [25, 26]
IDH2 可提示预后 [25, 26]
ErbB/HER蛋白家族 EGFR 与胆管癌大体类型、肿瘤转移、血管浸润等相关,可提示预后以及提供靶向治疗位点 [41]
HER-2 可提示预后以及提供靶向治疗位点 [41]
PI3K/mTOR信号通路 PTEN 提供靶向治疗位点 [42]
PIK3CA 提供靶向治疗位点 [42]
lncRNA PCAT-1 与肿瘤转移相关,可提示预后以及提供靶向治疗位点 [38]
AFAP1-AS1 与肿瘤进展相关,可提示预后以及提供靶向治疗位点 [39]
PANDAR 与淋巴结转移、肿瘤复发相关,可提示预后以及提供靶向治疗位点 [43]
H19 与TNM分期、肿瘤复发以及生存时间相关,可提示预后以及提供靶向治疗位点 [44]
MALAT1 与肿瘤大小和浸润性生长相关,可提供靶向治疗位点 [45]
TUG1 与TNM分期、肿瘤复发以及生存时间相关,可提示预后以及提供靶向治疗位点 [46]
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