家族聚集性胃癌的临床病理特征：一项单中心回顾性研究

doi:10.3969/j.issn.1009-976X.2025.05.001

摘要/Abstract

摘要： 目的探讨家族聚集性胃癌的临床病理特征,并比较不同类型家族史胃癌先证者的差异,为探索中国人群,特别是东亚地区家族性胃癌的独特遗传背景提供线索。方法回顾性收集2018年1月1日至2018年12月31日于中山大学附属第六医院医院就诊并接受手术的282例胃癌患者资料。通过电话随访获取有效的恶性肿瘤家族史信息,最终184例患者纳入分析。根据家族史情况划分为5个队列（总家族史阳性/阴性、胃癌家族史阳性/阴性、结直肠癌家族史阳性/阴性、HDGC/非HDGC、FIGC/非FIGC）。比较各队列先证者的流行病学及临床病理特征。结果在184例先证者中,58例（31.5%）有恶性肿瘤家族史。其中,胃癌是最常见的家族聚集性肿瘤（15/58,25.9%）。队列分析显示,与家族史阴性组相比,总家族史阳性组（P=0.026）、胃癌家族史阳性组（P=0.011）以及符合家族性肠型胃癌（FIGC）标准的家系（P=0.004）的先证者,其HER2免疫组化表达率显著更高。此外,胃癌家族史阳性组的癌结节数量更多（P=0.042）,而HDGC家系先证者则表现出更年轻、更高比例的低分化和弥漫型胃癌的特征。结论中国华南地区胃癌患者中存在显著的家族聚集现象。具有胃癌或肠型胃癌家族史的先证者表现出独特的HER2蛋白表达特征,这提示其潜在的遗传机制可能不同于西方人群常见的CDH1突变相关的HDGC或林奇综合征,HER2相关信号通路可能在中国人群家族聚集性胃癌的发生中扮演重要角色。

关键词: 胃癌, 家族聚集性, 临床病理特征, HER2, 家族性肠型胃癌（FIGC）, 回顾性研究

Abstract: Objective To investigate the clinicopathological characteristics of familial clustering gastric cancer and compare the differences among probands with different types of family history, providing clues for exploring the unique genetic background of familial gastric cancer in Chinese, particularly East Asian populations. Methods Data from 282 gastric cancer patients who underwent surgery at the Sixth Affiliated Hospital of Sun Yat-sen University between January 1 and December 31, 2018, were retrospectively collected. Valid family history of malignant tumors was obtained via telephone follow-up, with 184 patients ultimately included in the analysis. Probands were divided into five cohorts based on family history： overall positive/negative family history, positive/negative family history of gastric cancer, positive/negative family history of colorectal cancer, HDGC/non-HDGC （according to 2015 IGCLC criteria）, and FIGC/non-FIGC （according to 1999 IGCLC criteria）. The epidemiological and clinicopathological characteristics of probands across cohorts were compared. Results Among the 184 probands, 58 （31.5%） had a positive family history of malignant tumors. Gastric cancer was the most commonly clustered malignancy within these families （15/58, 25.9%）. Cohort analysis revealed that probands in the overall positive family history group （P=0.026）, the positive gastric cancer family history group （P=0.011）, and families meeting the FIGC criteria （P=0.004） had a significantly higher rate of HER2 positivity on immunohistochemistry compared to their respective negative or non-FIGC groups. Additionally, the positive gastric cancer family history group had a higher number of tumor deposits （P=0.042）. Probands from HDGC families exhibited characteristics including younger age and a higher proportion of poorly differentiated and diffuse-type gastric cancers. Conclusion Significant familial clustering of gastric cancer exists in the patient population from Southern China. Probands with a family history of gastric cancer, particularly those meeting FIGC criteria, exhibit a distinct feature of HER2 protein overexpression. This suggests that the underlying genetic mechanism may differ from the CDH1 mutation-associated HDGC common in Western populations or Lynch syndrome. The HER2-related signaling pathway may play an important role in the pathogenesis of familial clustering gastric cancer in the Chinese population.

Key words: gastric cancer, familial clustering, clinicopathological characteristics, HER2, familial intestinal gastric cancer, retrospective study

中图分类号:

R735.2

李森茂, 和玄, 王鹏亮, 吴现瑞, 廖艺. 家族聚集性胃癌的临床病理特征：一项单中心回顾性研究[J]. 岭南现代临床外科, 2025, 25(05): 281-287.

LI Sen-mao, HE Xuan, WANG Peng-liang, WU Xian-rui, LIAO Yi. Clinicopathological features of gastric cancer with familial aggregation: a single-center retrospective study[J]. Lingnan Modern Clinics In Surgery, 2025, 25(05): 281-287.

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