肝胆恶性肿瘤家族遗传特点的研究及其临床意义

Study on and clinical significance of family genetical features of hepatobiliary cancer

目的分析肝胆恶性肿瘤的家族遗传特点,确定高危人群,提高早期诊断率和手术切除率,改善预后。方法将1993年1月至2002年12月收治的胆道恶性肿瘤患者50例和原发性肝癌患者100例列为观察组,胆石症患者100例和乙型肝炎并肝硬化患者100例列为对照组。通过随访统计观察组家族成员中恶性肿瘤的发病情况。结果50例胆道恶性肿瘤患者的血缘亲属中发生恶性肿瘤1例,非血缘家属中无恶性肿瘤发生,家族中恶性肿瘤发病率为2.0%(1/50)。100例原发性肝癌患者中,血缘亲属发生恶性肿瘤22例,发生率为22.0%(22/100)。其中原发性肝癌20例,发病率为20.0%(20/100)。非血缘家属中无恶性肿瘤发生。100例胆石症和100例乙肝并肝硬化患者的血缘亲属及非血缘家属均无恶性肿瘤发生,家族发病率0。结论胆道恶性肿瘤患者家族成员之间未发现明显的家族遗传关系,单纯的家族遗传因素对胆管癌发病的影响并不大。原发性肝癌的发病有明显的家族遗传性,其一级亲属中合并乙肝(尤其合并小三阳)和肝硬化的男性成员,应列为原发性肝癌发病的极高危人群,必须严密观察,以提高早期诊断率和手术切除率,改善预后。

Objectives To analyze the family genetic features of hepatobiliary cancer, to determine high risk people to rise the early diagnosis rate and resection rate, and to improve prognosis. Methods The patients with hepatobiliary disease from January 1993 to December 2002 were divided into observation group and control group. Fifity cases of biliary cancer and 100 cases of primary liver cancer belonged to observation group, 100 cases of cholilithiasis and 100 cases of hepatitis B with hepatic cirrhosis belonged to control group. The incidences of malignant tumor in families of hepatobiliary cancer patients were investigated by follow-up. Results One case of malignant tumor was found in consanguinity relatives of patients with biliary cancer. There was no malignant tumor case in non-consanguinity relatives. The incidence of malignant tumor in family was 2. 0% （1/50）. There were 22 cases of malignant tumor（20 cases were primary liver cancer） in consanguinity relatives of primary liver cancer patients, the incidence of same cancer was 20. 0% （20/ 100）. No malignant tumor case was found in non-consangninity relatives of primary liver cancer patients. There was no malignant tumor case in family relatives of control group, the incidence of malignant tumor was 0. 0%. Conclusion No obvious genetic relation among the family relatives of biliary cancer was found. Genetics is not an important factor in pathogeny of biliary cancer. The obvious genetic relation was found in family relatives of primary liver cancer. The high-risk people of primary liver cancer is the first grade male relatives with hepatitis B and hepatic cirrhosis. They should receive the regular medical examination to promote the early diagnosis rate and resection rate and to improve the patients＇ prognosis.