The Genetics of Familial Medullary Thyroid Carcinoma

Abstract

The occurrence of familial medullary thyroid carcinoma, with genetic aggregation, as well as its possible association with other endocrinopathies underline the need to establish a diagnostic and therapeutical protocol that allows the rigorous screening and early detection of this neoplasia. The introduction of calcitonin determinations in daily practice resulted in the reevaluation of most patients with this diagnosis. The screening performed on the cases mentioned detected nine families with familial medullary thyroid carcinoma. These cases were evaluated using clinical, imaging and serological examinations. The patients subsequently underwent curative or prophylactic total thyroidectomy. The diagnostic and therapeutic strategy used in this study can be observed in the algorithm presented. This protocol is meant to be an accessible tool that the practitioner can use in order to minimize the risks of ignoring vital parameters.