Carcinoma medular de tiroides: genética, diagnóstico, opciones terapéuticas y seguimiento

Medullary thyroid cancer (MTC) is an infrequent neuroendocrine malignant tumor that presents significant challenges in its diagnosis, therapy, and follow-up. The preoperative diagnosis is based on clinical suspicion, measurement of calcitonin (Ct) levels, and careful analysis of cytology obtained by fine needle aspiration. Once the diagnosis is confirmed, genetic testing of RET proto-oncogene should be performed to define prognosis, complementary studies and genetic counseling. Pre and postoperative staging is essential to perform adequate therapy. Cervical surgery is the only potentially curative therapy for MTC. Follow-up should be systematic, with measurement of Ct and CEA levels and appropriate imaging according to disease staging. Systemic therapy should be evaluated on an individual basis, considering the evolution and progression of the disease. As this is a low-frequency malignant tumor with variable behavior, it is recommended that these cases should be managed by experienced multidisciplinary groups.

The objective of this article is to describe the main characteristics of this neoplasia, highlighting its genetic aspects, clinical manifestations, diagnostic methods, and current treatment and follow-up options.