[Clinical follow up and histological findings of patients with MEN2 treated with prophylactic thyroidectomy]

To present our experience in the prophylactic management of the medullary thyroid carcinoma (MTC), reviewing the correlation between clinical, analytical, histopathological, and genetic findings on subjects with type 2A multiple endocrine neoplasia (MEN 2A) and familial MTC.

A retrospective study was done by reviewing the medical records of patients diagnosed with MEN 2A or familial MTC, between 1997 and 2011. The variables studied were sex, age at the time of diagnosis, age at the time of surgery, pre and post operative Calcitonin levels, pre and post op Metanephrine levels in patients with MEN 2A, histopathological findings, follow up and overall survival.

Thirteen patients were identified with family history of MTC, 9 females and 4 males. Eleven carriers of mutation on RET proto-oncongene for MEN 2A and no carriers for Familial MTC. The median age at the time of diagnosis was 4.2 years (range: 1.8 to 8.2). All patients were treated with total thyroidectomy, with a median age of 6 years (range: 4.08 to 8.5). The histopathological findings demonstrated 7 cases of C-Cells nodular hyperplasia, 2 micro-carcinomas, 1 multicentric carcinoma, 1 lymphocytic thyroiditis and 2 without evidence of disease. Elevated pre operative Calcitonin levels were found in 3 cases, correlated with one histopathological finding of micro-carcinoma. All patients are disease free.

In patients with genetic predisposition to suffer the disease, early prophylactic thyroidectomy is the only current available approach to prevent and cure MTC. The creation of a multidisciplinary team (Endocrinology, clinical genetics, and pediatric surgery), is necessary to study, manage and follow up patients with MEN 2A and their families.