中华医学杂志（英文版）2009，Vol.122Issue(13)：1495-1500,6.DOI:10.3760/cma.j.issn.0366-6999.2009.13.004
Diagnosis and surgical treatment of multiple endocrine neoplasia
Diagnosis and surgical treatment of multiple endocrine neoplasia
ZHOU Guang-wen 1WEI Yao 2CHEN Xi 2JIANG Xiao-hua 3LI Xiao-ying 3NING Guang 3LI Hong-wei2
作者信息
- 1. Department of Surgery,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China
- 2. Department of Surgery ,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China
- 3. Department of Endocrine and Metabolism,Ruijin Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai 200025,China
- 折叠
摘要
Abstract
Background Multiple endocrine neoplasia (MEN) is relatively rare. But more patients could be found by detailed examination. We discuss the diagnosis and surgical treatment of MEN. Methods The clinical data of 95 MEN cases were retrospectively analyzed. There were 30 cases of MEN1 including 19 cases from 6 families. The MEN1 gene mutation was detected in 81.48% of cases admitted after 1997. There were 22 cases of primary hyperparathyroidism (PHPT), 10 cases of enteropanceatic tumor including 9 cases of insulinoma, 15 cases of pituitary adenoma, 9 cases of adrenal adenoma, 2 cases of thymic carcinoid. Two patients had 4 glands involved, 3 patients had 3 glands involved, 16 patients had 2 glands involved, and 6 patients had only one gland involved. Three patients had neither clinical symptoms nor biochemical changes, and was diagnosed by MEN1 gene mutation. Six patients presented with nephrolithasis and 6 patients had impaired pancreatic endocrine function. There were 60 cases of MEN2a and 5 cases of MEN2b. 58 cases of MEN2a belongs to 19 kindreds. All MEN2a patients but one presented RET gene mutation in codon 634, and all MEN2b cases had mutation in codon 918. 48 cases of MEN2a had thyroid masses with elevated calcitonin levels. 27 patients had pheochromocytoma including 12 cases of multiple loci and 5 malignancy. 13 patients presented with hyperparathyroidism. 5 MEN2b patients had medullary thyroid carcinoma and mucosal ganglioneuromatosis with Marfanoid. Among them, 3 patients had bilateral pheochromocytoma. Results In MEN1, subtotal parathyroidectomy was performed in 12 patients with PHPT and one patient received parathyroid adenoma enucleation. Insulinomas were enucleated in 4 patients. Two patients underwent thymus tumor extirpation. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 16 patients with MEN2a and nodule enucleation was performed in 9 patients. Twenty two MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 10 cases. 5 MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Among them, 3 cases underwent bilateral adrenal operations. Conclusions MEN varies in symptoms. Germline mutation test is helpful in establishing a diagnosis. Surgical management should be aimed at the improvement of life quality in MEN1 and prevention of the fetal tumors in MEN2.关键词
multiple endocrine neoplasia/ surgical treatment/ diagnosis/ geneKey words
multiple endocrine neoplasia/ surgical treatment/ diagnosis/ gene分类
医药卫生引用本文复制引用
ZHOU Guang-wen,WEI Yao,CHEN Xi,JIANG Xiao-hua,LI Xiao-ying,NING Guang,LI Hong-wei..Diagnosis and surgical treatment of multiple endocrine neoplasia[J].中华医学杂志（英文版）,2009,122(13):1495-1500,6.
