Research advancement and application of genetic biomarkers of cholangiocarcinoma

doi:10.3877/cma.j.issn.1674-0793.2017.06.017

Abstract

Abstract:

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.

Key words: Bile duct neoplasms, Molecular biology, Genetic markers, DNA mutational analysis, Epigenomics

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.

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URL: https://zhptwkxwx.cma-cmc.com.cn/EN/10.3877/cma.j.issn.1674-0793.2017.06.017

https://zhptwkxwx.cma-cmc.com.cn/EN/Y2017/V11/I06/428

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References 46

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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]

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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