Multiple Endocrine Neoplasia Type 2A-2B: surgical management and outcome on 18 patients.

  • Background: Surgical resection is the only curative method for multiple endocrine neoplasia type 2 (MEN 2)-related medullary thyroid carcinoma (MTC). Our aim is to compare the therapeutic efficacy of prophylactic thyroidectomy compared to the curative thyroidectomy, to evaluate the long-term outcome of subjects undergoing prophylactic surgical treatment and the onset of post-operative complications. Furtherly to compare the patients with de novo RET mutations and with inherited mutations and their outcome.

    Methods: 18 patients (10 women, 8 men) with a confirmed genetic diagnosis of MEN 2. These patients underwent total thyroidectomy associated with central lymphnode dissection and they were followed at our institute between 2005 and 2018: 13 were treated with a prophylactic thyroidectomy and 5 were treated with a curative thyroidectomy. All patients underwent clinical, hystopathological, laboratory, instrumental and genetic evalutation.

    Results: All patients with prophylactic thyroidectomy recovered. 3 subjects with MEN 2B, caused by de novo RET mutations and treated by curative surgery, showed disease recurrence during the follow-up. Permanent hypoparathyroidism occurred in 3 cases (17%): 2 underwent total resection associated with central and lateral lymphode compartments dissections, while 1 patient suffered  recurrent laryngeal nerve injury.

    Discussion & Conclusions: Our study demonstrates that prophylactic total thyroidectomy remains the only method to obtain a curative result for MEN 2-related MTC. The patients with de novo RET mutations who didn’t receive the RET genetic screening, underwent a delayed surgery. In fact, MTC was often regionally advanced or metastatic. It’s important to recognize the MEN 2B phenotype in order to anticipate diagnosis, treatment and to research causes of de novo RET mutations.

 

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