单纯家族性嗜铬细胞瘤的一家系调查与临床分析

Family survey and clinical analysis of a nonsyndrome pheochromocytoma family

目的：探讨单纯家族性嗜铬细胞瘤的临床特征。方法：调查一个单纯家族性嗜铬细胞瘤家系．绘制该家系发病图谱，并进行遗传学分析。结果：该家系4代56人中7人患嗜铬细胞瘤，其中2例拟诊，5例经手术证实。发病部位均为肾上腺，6例为双侧多发，其中术后对侧复发肿瘤3例。病理检查均为良性。术后患者症状消失，随访6月～23年患侧无复发。结论：该家系嗜铬细胞瘤符合常染色体显性遗传特点。单纯家族性嗜铬细胞瘤发病急骤，常见双侧多发，肿瘤极少恶变，不并发各种遗传综合征。切除单侧肿瘤者术后应定期随访。

Objective：To study the clinical characteristics of nonsyndrome familial pheochromocytoma. Methods：A nonsyndrome pheochromocytoma family was investigated . Then a dendrogram was drawn and a genetic a nalysis was performed. Results： There are seven members with pheochromocytoma in the big family which includes fifty-six members. Two patients were clinically suspected and five patients were confirmed by operation. The tumors were planted on the adrenal body only. Six patients were found bilateral and mutiple tumors and three of them were recurred on the opposite side after unilateral operation. The pathological examinations were benign and the symptoms were disappeared after operation. All the patients were followed up for six months to twenty three years. There was no recurrence on the sick side. Conclusions： The characteristic of this kindred is according with that of autosomal dominant inheritance disease. The disease progressions of nonsyndrome familial pheochromocytomas are rapid. Usually the tumors are bilateral,mutiple, benign,and are not complicated by genetic syndromes. All the patients should be followed up regularly after unilateral operation.