Diagnosis and surgical treatment of multiple endocrine neoplasia.
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 foci 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.
Zhou
Guang-wen
GW
Department of Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Wei
Yao
Y
Chen
Xi
X
Jiang
Xiao-hua
XH
Li
Xiao-ying
XY
Ning
Guang
G
Li
Hong-wei
HW
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D003062:Codon; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009377:Multiple Endocrine Neoplasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics
D003062:Codon; C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human