Diagnosis and surgical treatment of multiple endocrine neoplasia type 2 / 中国普通外科杂志

ABSTRACT

Objective To discuss the diagnosis and surgical treatment of multiple endocrine neoplasia 2 (MEN2). Methods The clinical data of 28 MEN2 cases from Jun 1997 to Jun 2006 were retrospectively analyzed. Results There were 25 cases of MEN2a and 3 cases of MEN2b. Among the patients of MEN2a, 23 patients were from 7 families with mutation of codon 634, exon 11 of RET, 3 patients of MEN2b had mutation of codon 918, exon 16 of RET and no family history. Twenty-two cases of MEN2a had thyroid masses with elevated calcitonin level, in which 17 were pathologically diagnosed as medullary thyroid carcinoma (MTC) ,12 patients had pheochromocytomas. Among them, 5 were of multiple foci and 2 were malignant. Five patients presented hyperparathyroidism and 3 patients were asymptomatic without biochemical alterations. Three MEN2b patients had MTC and mucosal ganglioneuromatosis with Marfanoid, one patient had bilateral pheochromocytoma. Total thyroidectomy with bilateral dissection of regional lymph nodes was performed in 12 patients of MEN2a, and nodule enucleations was done in other 5 patients followed by persistent elevated calcitonin level. Nine MEN2a patients underwent pheochromocytoma enucleation including bilateral adrenal resection in 3 cases. Three MEN2b patients underwent total thyroidectomy with bilateral lymph node dissection. Conclusions MTC is the most often complications of MEN2. Germline mutation test helps to make early diagnosis. Radical total thyroidectomy in young patients may prevent MTC.