多发性内分泌瘤病2A型13例临床分析

Diagnosis and treatment of multiple endocrine neoplasia type 2A

目的探讨多发性内分泌瘤病2A型（MEN-2A型）的临床特点和治疗方法。方法回顾性分析1988年至2011年我院收治的13例MEN－2A型患者的临床资料。13例均为嗜铬细胞瘤伴甲状腺髓样癌，无甲状旁腺功能亢进。其中8例甲状腺髓样癌发病早于嗜铬细胞瘤，5例同时伴发嗜铬细胞瘤。均行嗜铬细胞瘤切除，其中9例行双侧肾上腺肿物切除，4例行腹腔镜肾上腺肿物切除术；10例行甲状腺癌根治术，颈部淋巴结清扫，3例行甲状腺单侧叶切除术。结果术后病理检查，肾上腺均为嗜铬细胞瘤，其中恶性倾向3例；甲状腺均为甲状腺髓样癌。13例术后均随访至2012年6月，存活10例，死亡3例，死因均为甲状腺髓样癌远处转移。结论此病罕见，手术是治疗该病的惟一方法，当嗜铬细胞瘤与甲状腺髓样癌同时存在时，首先应切除嗜铬细胞瘤。

Objective To review clinical characteristics and treatment of muhiple endocrine neoplasia type 2A （MEN-2A）. Methods The clinical data of 13 patients with MEN-2A admitted to our hospital between 1988 and 2011 were retrospectively reviewed. All 13 cases were diagnosed as pheochromocytoma with medullary thyroid carcinoma, presenting no hyperparathyroidism, including 8 cases who had medullary thyroid carcinoma before pheochromocytoma and 5 cases who had medullary thyroid carcinoma and pheochromoeytoma simultaneously. All 13 cases underwent resection for pheochromocytoma; 9 cases had bilateral adrenal resection, including 4 cases undergoing laparoscopie resection for pheochromocytoma. Thyroidectomy with bilateral dissection of regional lymph nodes was performed in 10 patients, and nodule enueleation was performed in 3 remaining patients. Results Adrenal pathology reported pheochromocytoma in all cases, including 3 malignant cases. Thyroid pathology reported medullary thyroid carcinoma in all cases. All 13 patients were followed-up visit, 10 cases survived and 3 died from distant metastasis of medullary thyroid carcinoma. Conclusions MEN-2A is a rare disease. Surgery is the only treatment for this disease ; when patients have both pheochromocytoma and medullary thyroid carcinoma, to first remove the pheochromocytoma is preferable.