Correlation ofHSD3B1gene polymorphism and clinicopathological characteristics of prostate cancer

潘　剑; 韦　煜; 吴俊龙; 万方宁; 叶定伟; 朱　耀

doi:10.19401/j.cnki.1007-3639.2020.09.002

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Correlation ofHSD3B1gene polymorphism and clinicopathological characteristics of prostate cancer

更新时间：2026-01-27

- Correlation ofHSD3B1gene polymorphism and clinicopathological characteristics of prostate cancer
- China Oncology Vol. 30, Issue 9, Pages: 650-655(2020)
- 作者机构：
  
  复旦大学附属肿瘤医院泌尿外科，复旦大学上海医学院肿瘤学系,上海,200032
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2020.09.002
  CLC： R737.25
- Published Online：10 October 2020，
  
  Published：10 October 2020
- 稿件说明：
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潘　剑, 韦　煜, 吴俊龙, 万方宁, 叶定伟, 朱　耀.

潘　剑, 韦　煜, 吴俊龙, et al. Correlation ofHSD3B1gene polymorphism and clinicopathological characteristics of prostate cancer[J]. China Oncology, 2020, 30(9): 650-655.
潘　剑, 韦　煜, 吴俊龙, 万方宁, 叶定伟, 朱　耀. DOI： 10.19401/j.cnki.1007-3639.2020.09.002.

潘　剑, 韦　煜, 吴俊龙, et al. Correlation ofHSD3B1gene polymorphism and clinicopathological characteristics of prostate cancer[J]. China Oncology, 2020, 30(9): 650-655. DOI： 10.19401/j.cnki.1007-3639.2020.09.002.

摘要

背景与目的：HSD3B1（1245AC）等位基因变异体与去势抵抗型前列腺癌（castration-resistant prostate cancer，CRPC）的发生有关，可以作为评估激素敏感性前列腺癌患者的雄激素剥夺治疗（androgen-deprivation therapy，ADT）效果的生物标志物。比较中国人群与其他人种HSD3B1基因突变频率的差异，探究HSD3B1基因多态性和前列腺癌临床病理学特征的相关性。方法：回顾性分析2014年6月—2019年6月复旦大学附属肿瘤医院泌尿外科收治的180例前列腺癌患者的临床资料，并对这些患者的DNA进行测序，得到HSD3B1基因的各基因型频率，对比中国人群与其他人种HSD3B1基因突变频率的差异。同时对前列腺癌患者HSD3B1基因的各基因型与诊断时年龄、ADT前前列腺特异性抗原（prostate-specific antigen，PSA）值、Gleason评分、转移负荷和临床病理学分期之间的关系进行统计学分析。结果：中国前列腺癌患者HSD3B1基因的AA基因型频率为86.7%，AC为13.0%，CC为0.3%，HSD3B1基因的突变频率为13.3%，显著低于美国的55.8%（P0.05）。此外，突变组患者的平均发病年龄［（61±8）岁］显著低于正常组［（66±7）岁］，差异有统计学意义（P0.05）。突变组与正常组在PSA值、Gleason评分、转移负荷和临床病理分期上的差异无统计学意义。结论：HSD3B1基因突变组的发病年龄显著低于正常组，同时，与欧美国家人群HSD3B1（1245AC）等位基因变异体可以作为ADT效果的标志物不同，中国人群HSD3B1基因的突变频率较低，对于预测ADT效果的价值有限。

Abstract

Background and purpose: HSD3B1 (1245AC) is linked to castration-resistant prostate cancer (CRPC)

and could be a powerful genetic biomarker of the effectiveness of androgen deprivation therapy (ADT) in prostate cancer patients. This study aimed to compare the difference in HSD3B1 gene mutation frequency between the Chinese population and other races

and to explore the correlation between HSD3B1 gene polymorphism and clinicopathological characteristics of prostate cancer. Methods: A total of 180 prostate cancer patients in Fudan University Shanghai Cancer Center from Jun. 2014 to Jun. 2019 were retrospectively enrolled

and germline DNA samples of 180 prostate cancer patients were sequenced for HSD3B1 gene. To compare the difference in HSD3B1 mutation frequency between the Chinese population and other races

meanwhile

statistical methods were used to analyze the association between germline mutation status and clinical relevance. Results: Of the 286 patient samples analyzed

38 harbored a mutational variant (1245C): 86.7% in AA

13.0% in AC

0.3% in CC. The frequency of mutation in HSD3B1 among Chinese prostate cancer patients was significantly lower compared with the figure reported by the American (13.3% vs 55.8%

P=0.01). In addition

the mean age of onset was significantly lower in the mutated group than in the normal group: 61±8 vs 66±7 (P0.05). However

there was no difference in mutation frequencies according to prostate-specific antigen (PSA) level

Gleason score

metastases volume or clinical pathological stage (P0.05). Conclusion: The age of onset of the HSD3B1 gene mutated group is lower than that of the normal group. Meanwhile

due to the low frequency of mutations in the Chinese population

HSD3B1 (1245AC) cannot play a role in predicting the efficacy of ADT as it does in the American and European populations.

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