Multiple endocrine neoplasia type 2: Surgical management
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28 Hellenic Journal of Surgery 2013; 85: 1
Multiple Endocrine Neoplasia Type 2: Surgical Management Review Article E. Poulios, A. Kiriakopoulos, D. Tranoudakis, D. Linos Received 29/10/2012 Accepted 10/12/2012
Abstract Aim-Background: Multiple endocrine neoplasia type 2 (MEN-2) occurs as a result of germline mutation in a 21-exon proto-oncogene located on chromosome 10q11.2, which encodes a tyrosine kinase receptor (RET). Patients with MEN-2 face a lifetime risk of developing medullary thyroid carcinoma (MTC); this risk exceeds 95% in untreated patients. Three clinical subtypes have been defined: MEN-2A, MEN-2B, and familial MTC (FMTC). The type depends on the specific codon mutation, the risk of developing pheochromocytoma, hyperparathyroidism, and the presence of specific physical features. The therapeutic approaches in patients with germline mutation of an RET proto-oncogene are reviewed herein. Methods: A Medline search was conducted using the terms MEN-2A syndrome, surgical management of MEN-2A, prophylactic thyroidectomy, lymph node dissection and thyroidectomy in MEN-2A, adrenalectomy and parathyroidectomy in MEN-2A patients. Results: Once diagnosis for MEN-2 is suspected, patients should undergo genetic screening for RET mutations and a careful family history check. In almost 99% of cases, a mutation can be identified by a DNA test. The results of the DNA test affect the surgical management. Given the potential risk of disease and metastases development, all patients presenting a RET mutation without evidence of MTC should undergo early prophylactic thyroidectomy, preferably during childhood. Evidence of MTC demands total thyroidectomy with central lymph node dissection. If an adrenal pheocromocytoma is diagnosed in patients, this should be managed first. The optimal approach for a localized unilateral tumour is a laparoscopic unilateral adrenalectomy. In bilateral disease, bilateral excision of adrenal glands is required. If feasible, cortical sparing adrenalectomy may be considered to reduce the risk of an Addisonian crisis.
E. Poulios (Corresponding author), A. Kiriakopoulos, D. Tranoudakis, D. Linos - 1st Surgical Clinic D.T.C.A Hygeia Hospital,Athens,Greece e-mail: [email protected]
Any enlarged parathyroid glands found during therapeutic or prophylactic thyroidectomy must be excised, even in those patients who are eucalcemic. If hyperparathyroidism is evident, all parathyroid can be identified by bilateral neck exploration; those with pathological morphology should be removed. In four-gland disease, subtotal or total parathyroidectomy with autotransplantation in the forearm are the optimal options. Conclusions: MEN-2A syndrome is a rare genetic disease in which early detection of mutation can facilitate prevention and cure of cancer. There are variable expressions of phenotypes, and the therapeutic approach depends on the clinical presentation of the disease. Given the risk of recurrence and different clinical pathologies that can emerge years after the initial disease, all patients must
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