多发性内分泌肿瘤-1型相关胰腺内分泌肿瘤的诊断与治疗

目的 总结多发性内分泌肿瘤-1型(MEN-1)相关胰腺内分泌肿瘤(PET)的诊治经验.方法 2004年1月至2007年12月上海交通大学医学院附属瑞金医院外科共收治MEN-1相关PET患者10例,其中男性2例,女性8例.来院时均未诊断为MEN-1,首次出现PET相关症状年龄为11～49岁,平均(32±11)岁.通过对患者进行定性、定位检查和基因测序明确诊断.并对患者进行药物治疗、手术干预和随访观察.结果 10例患者中诊断胰岛素瘤9例,其中多发性胰岛素瘤2例,单发胰岛素瘤合并多发无功能性胰岛细胞瘤及十二指肠恶性胃泌素瘤肝转移1例;胰高血糖素瘤1例.10例患者中,有家族史5例,检出MEN1基因突变9例.所有患者中,7例患者经过9次手术治疗,发现胰岛素瘤12个、无功能胰岛细胞瘤4个、十二指肠胃泌素瘤1个;2例患者接受饮食和药物治疗;1例患者放弃治疗.随访1个月～11年,除1例患者放弃治疗死亡外,其余9例患者病情稳定,血糖均在正常范围之内.结论 加强对PET及MEN-1的认识,及时诊断MEN-1相关的PET,进行合理积极的手术治疗,能够改善患者生活质量,并有望延长患者的生存期.

Diagnosis and treatment of multiple endocrine neoplasia type 1 related pancreatic endocrine tumors

Objective To summarize the experience on diagnosis and treatment of multiple endocrine neoplasis type 1 ( MEN-1 ) related pancreatic endocrine tumors (PET). Methods From January 2004 to December 2007, there were 10 patients of MEN-1 related PET were treated in Shanghai Jiaotong University School of Medicine Affiliated Ruijin Hospital. There were 2 males and 8 females,aged from 11 to 49 years old. They were diagnosed by laboratory tests, imaging examinations and genes sequencing. Drug therapy, surgery and follow-up were applied on the patients. Results There were 9 patients having insulinomas including 2 cases of multiple insulinomas and 1 case presenting an insulinoma, multiple nonfunctional PET and malignant duodenum gastrinoma with liver metastasis. The other patient was diagnosed as glucagonoma clinically. Five cases had family history and MEN-1 gene mutation was detected in 9 patients. Seven patients accepted nine operations. Twelve insulinomas, four nonfunctional PET and one duodenum gastrinoma were found in the operations. All patients were followed up from 1 month to 11 years, and 9 patients with good conditions and 1 patient died. Conclusions Well recognizing PET and MEN-1, early diagnosing MEN-1 related PET, appropriately surgical intervention will prove patients' life quality and will help for prolonging patients' survival time.