2A型多发性内分泌腺瘤10例临床分析  

Clinical Analysis of Multiple Endocrine Neoplasia Type Ⅱ A

作　　者：彭杰[1] 张辉[1] 李黎明[1] 强万明[1] 

机构地区：[1]天津医科大学总医院泌尿外科,天津市300052

出　　处：《中国肿瘤临床》2009年第10期551-553,共3页Chinese Journal of Clinical Oncology

摘　　要：目的:提高对2A型多发性内分泌腺瘤(MEN2A)的认识水平,探讨MEN2A的临床特点和治疗方法。方法:回顾我院自1988年至2007年收治的10例2A型多发性内分泌腺瘤病人的资料,结合文献进行讨论。结果:10例均为嗜铬细胞瘤伴甲状腺髓样癌,无甲状旁腺机能亢进。8例甲状腺髓样癌发病早于嗜铬细胞瘤,2例患者同时伴发嗜铬细胞瘤。7例临床表现为阵发性高血压、心悸、头晕,经查体发现3例。10例行B超、CT检查,2例行MRI检查。8例24小时尿VMA(4-羟基-3甲氧扁桃酸)明显高于正常,最高达940μmol/L,5例血降钙素明显增高,最高达3 465μmol/L。其中3例追踪随诊证实为甲状腺髓样癌。4例有明显的家族发病特点。10例均行嗜铬细胞瘤切除,其中7例行双侧肾上腺肿物切除,1例行腹腔镜微创术切除肾上腺肿物,7例病人行甲状腺癌根治术,颈部淋巴结清扫,3例行甲状腺单侧叶切除。病理报告肾上腺肿物恶性倾向3例。术后所有病人均进行随访,效果良好。结论:此病罕见,ret原癌基因的突变是MEN2A发病基础。血降钙素、24小时尿VMA浓度、B超、CT、MRI是该病诊断的主要手段。手术是治疗该病的唯一方法,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。基因诊断逐渐成为诊断该病的重要手段。Objective： To better understand multiple endocrine neoplasia Type Ⅱ A （MEN Ⅱ A）, and to study the clinical characteristics and treatment of MENIIA. Methods： We reviewed the clinical data from 10 cases of MEN Ⅱ A seen in our hospital between 1988 and 2007. Results： The 10 cases were diagnosed with pheochromocytoma with modullary thyroid carcinoma （MTC） with no hyperparathyroidism. Eight cases had MTC before pheochromocytoma. Two cases had MTC and pheochromocytoma simultaneously. Seven cases had clinical manifestations of paroxysmal hypertension, palpitation and dizziness. Three cases were discovered while undergoing routine physical examination. All 10 cases underwent B-US and CT, while only 2 cases underwent MRI. Eight cases had increased VMA in 24 hr urine and the highest level was over 940μmol/L. Five cases had increased calcitonin and the highest level was over 3465μmol/L. Four cases had a family history of the disease. All 10 cases underwent resection of the pheochromocytoma including bilateral adrenal resection in 7 cases. One case underwent resection of the pheochromocytoma by Laparoscopy. Thyroidectomy with bilateral dissection of regional lymph nodes was performed in 7 patients, and nodule enucleation was done in the 3 remaining patients. Adrenal pathology reported 3 malignant cases. All patients were followed up. Conclusion： MEN is a rare disease that is due to a germline mutation in the RET proto-oncogene. Calcitonin level, 24 hr urinary VMA, B-US, CT, and MRI are the key examinations to make the diagnosis of MENIIA. Surgery is the only treatment for this disease. When the pheochromocytoma and the MTC exist at the same time, it is best to remove the pheochromocytoma as soon as possible. Genetic testing is becoming an important method in the diagnosis of MENIIA.

关 键 词：内分泌腺瘤 诊断 治疗 

分 类 号：R736[医药卫生—肿瘤] R457.11[医药卫生—临床医学]