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目的 分析乙型肝炎病毒相关肝细胞癌（hepatocellular carcinoma, HCC）患者的乙型肝炎病毒（hepatitis B virus, HBV）前表面抗原（preS）基因突变特点，描述HBV preS基因突变对HBV相关HCC的诊断价值。方法 回顾性分析2019年9月至2023年9月就诊于达州市中心医院消化内科的慢性乙型肝炎（chronic hepatitis B, CHB）患者（CHB组）和HBV相关HCC患者（HCC组）。采用sanger测序法分析preS区突变。结果 HCC组的患者年龄更大、基因型为C型的患者更多、HBV DNA水平更低、甲胎蛋白（alpha fetoprotein, AFP）水平更高（P<0.05）。在HCC组及CHB组中，共有24.41%(31/127)的患者发生preS1缺失，preS1区共发现47.90%(57/119)的点突变；共有16.54%(21/127)的患者发生preS2缺失，preS2区共发现65.45%(36/55)的点突变。preS1区W4P/R/Y、D27G/S、N51Y/T/S/Q/P、I/N56H/W、K57Q/K、A60V、D/A62S/T、G73S/N、A90T/S/G、V95A和L108V/I，以及preS2区T125S/N/P、F141V/L/I、V158A点突变在HCC组中的发生率高于CHB组（P<0.05）。基因型为C型、HBV DNA以及W4P/R/Y(preS1)、A90T/S/G(preS1)、L108V/I(preS1)、F141V/L/I(preS2)点突变可独立诊断CHB患者中HCC的发生。结论 preS区W4P/R/Y(preS1)、A90T/S/G(preS1)、L108V/I(preS1)、F141V/L/I(preS2)与HCC发生相关，使用这些点突变检测将有助于HBV相关HCC的临床诊断。
Abstract：Objective To analyze the characteristics of hepatitis B virus(HBV) preS gene mutations in patients with hepatocellular carcinoma(HCC), and to evaluate the diagnostic value of HBV preS gene mutations in HBV-associated HCC. Methods Clinical data were retrospectively collected frompatients with chronic hepatitis B(CHB, CHB group) and HBV-associated HCC(HCC group) who admitted to the Gastroenterology, Dazhou Central Hospital, from September 2019 to September 2023. PreS mutations were analyzed by sanger sequencing. Results Patients in HCC group were older, had more genotype C, lower HBV DNA, and higher alpha-fetoprotein(AFP) level(P <0.05). Among all patients, a total of 24.41%(31/127) patients had preS1 deletion, and 47.90%(57/119) point mutations were found in preS1 region. A total of 16.54%(21/127) patients had preS2 deletion, and 65.45%(36/55) point mutations were found in the preS2 region. PreS1 region W4P/R/Y, D27G/S, N51Y/T/S/Q/P, I/N56H/W, K57Q/K, A60V, D/A62S/T, G73S/N, A90T/S/G, V95A and L108V/I, The incidence of T125S/N/P, F141V/L/I and V158A point mutations in preS2 region was higher in HCC group than in CHB group(P <0.05). Genotype C, HBV DNA, and W4P/R/Y(preS1), A90T/S/G(preS1), L108V/I(pre S1), F141V/L/I(pre S2) point mutations can independently diagnose HCC in CHB patients. Conclusion W4P/R/Y(pre S1), A90T/S/G(preS1), L108V/I(preS1), F141V/L/I(preS2) in preS region are associated with HCC. The use of these point mutation tests may contribute the clinical diagnosis of HBV related HCC.
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基本信息:
DOI：
中图分类号:R512.62;R735.7
引用信息:
[1]陈秋宇,程倬,邬亚鑫等.乙型肝炎病毒preS基因突变对乙型肝炎病毒相关肝细胞癌的诊断价值[J].传染病信息,2025,38(04):313-319.
基金信息:
四川省医学会科研课题(2021XHNJ16)