单纯家族性嗜铬细胞瘤一家系报告并文献复习  

Non-syndromic familial pheochromocytoma-case report of a Chinese kindred and review of the literature

作　　者：王仁杰[1,2,3] 胡海龙[1,2,3] 白玫[1] 梅荣[1] 赵文鲁[1] 吴长利[1,2,3] 

机构地区：[1]天津医科大学第二医院,天津300211 [2]天津市泌尿外科研究所 [3]天津市泌尿外科基础医学重点实验室

出　　处：《山东医药》2013年第34期13-15,共3页Shandong Medical Journal

摘　　要：目的 探讨单纯家族性嗜铬细胞瘤的遗传和临床特征.方法 回顾分析1例单纯家族性嗜铬细胞瘤青少年患者的临床资料,并调查该家系发病情况,绘制家族发病图谱.结果 该家系三代人中有3例嗜铬细胞瘤,均在青少年期发病,发病部位均为肾上腺.均采用肾上腺肿物切除术治疗.1例术后发生对侧肿瘤复发,病理诊断均为良性嗜铬细胞瘤,随访1～29年无复发.结论 单纯家族性嗜铬细胞瘤符合常染色体显性遗传特点,多在青少年期发病.对青少年疑似患者进行候选基因突变检测有助于该病的早期诊断.Objective To investigate the genetic and clinical characteristics of non-syndromic familial pheochromocytoma.Methods We retrospectively analyzed the clinical data of a case of non-syndromic familial pheochromocytoma in an adolescent combined with relevant literature review.Then we investigated the incidence of his kindred and drew a dendrogram.Results There were three members with pheochromocytoma in the big family of three generations.All tumors occurred in adolescence which were planted on the adrenal body only.All three patients received operation of adrenalectomy.And one of them was recurred on the opposite side after unilateral operation.The pathologic results showed benign adrenal pheochromocytoma.The follow-up lasted for one year to twenty-nine years without recurrence.Conclusions The characteristic of non-syndromic familial pheochromocytoma is accordance with that of autosomal dominant inheritance disease.The tumor occurs mostly in adolescence.Mutation detection for candidate genes in adolescent patients with clinically suspected pheochromocytoma is conducive to the early diagnosis of this disease.

关 键 词：嗜铬细胞瘤 肾上腺 家族性 青少年 

分 类 号：R736.6[医药卫生—肿瘤]