家族性胃癌发病特征及预后的调查分析

Cross-sectional study of characteristics and prognosis of patients with familial gastric cancer

目的筛查家族性胃癌（FGC）并研究其发病特征和预后。方法横断面调查和采集广东地区5家医院2000--2007年住院治疗的3640例胃癌患者临床病理和家系资料，根据Amsterdam标准筛选FGC家系，分析FGC家系结构和肿瘤发病特点，比较FGC与散发性胃癌（SGC）肿瘤临床病理特征与患者预后的差异。多因素生存分析采用Cox回归（BackwardWald）模型。结果共筛选到112个FGC家系，占3．1％（112／3640）。FGC家系一、二级亲属中共有肿瘤182例，以胃癌最常见（154例，84．6％），其次是食管癌（8例，4．4％）和肺癌（6例，3．3％）。先证者按照性别分组比较，其亲属肿瘤构成比差异无统计学意义（P=0．644）；一级亲属中患者男106例、女44例，男女比例为2．4：1。FGC患者平均发病年龄54岁，SGC为64岁，其肿瘤临床病理特征两组差异均无统计学意义（均P〉0．05）。FGC组与SGC组患者5年总体生存率比较，差异无统计学意义（56．0％比48．8％，P=0．287）。多因素分析发现FGC不是胃癌预后的独立因素（HR=1．101，P=0．807）。结论FGC家系中胃癌最多见，先证者一级亲属中男性是高危人群。FGC较SGC发病年龄早，但临床病理特征及预后无显著差异，家系调查和遗传性检测才能诊断FGC。

Objective To screen and collect the familial gastric cancer （FGC） kindreds for exploring its clinicopathological characteristics and prognosis. Methods A cross-sectional study was performed among 3640 patients with gastric cancer at 5 hospitals in Guangdong province between 2000 and 2007 and FGC kindreds were diagnosed according to the Amsterdam criteria. Their pedigree features and cancer incidence were analyzed. Clinical characteristics and prognosis were compared between FGC and sporadic gastric cancer （SGC） patients. Survival curves and overall five-year survival rates were established according to the Kaplan-Mcier and Log-rank methods. Hazard ratios for death were calculated by Cox regression analysis. Results A total of 112 FGC kindreds （3.1%） were diagnosed among 3640 gastric cancer patients. In these 112 FGC families, 182 malignant tumors were diagnosed in the first- and second- degree relatives. Gastric cancer （ n = 154, 84. 6% ） , esophageal cancer （ n = 8, 4. 4% ） and lung cancer （n = 6, 3.3% ） were most common tumors. Tumor types in male proband families did not differ from those in female counterparts （ P = 0. 644）. Most tumors occurred in the first-degree relatives and the ratio of male- to-female was 106： 44. The mean age of FGC patients at 54 years was 10 years younger than that of SGC patients. No differences existed in tumor size, tumor location, Borrmann type, pT or pN between the FGC and SGC patients. The overall 5-year survival was 56. 0% for FGC patients and 48. 8% for SGC patients. Univariable （ P = 0. 287） and multivariable （ HR = 1. 101, P = 0. 807 ） analyses demonstrated that FGC was not a significant prognostic factor. Conclusions Gastric cancer is the most common cancer in FGC families. The first-degree male relatives are at a high risk of developing gastric cancer. Not particular clinical characteristics but pedigree examination facilitates the diagnosis of FGC.