Introduction: The correct identification of medullary thyroid carcinoma (MTC) has been a challenge since its first description. In the last few years, some advances in this context have been achieved. Here we aimed to review and discuss published data on the more recent acquisition in the diagnosis of MTC.
Evidence acquisition: A literature search of the medical databases was conducted by searching papers reporting tool for diagnosis of MTC published in the last years. The search was updated until July 2016.
Evidence synthesis: The literature search revealed several relevant articles which focused on different topics of the diagnosis of MTC. The results are reported by four paragraphs, such as 1) fine-needle aspiration; 2) molecular analysis; 3) serum markers; 4) imaging.
Conclusions: The measurement of calcitonin in FNA washout fluids is essential due to poor accuracy of conventional cytology to detect MTC. Genetic analysis can help to identify those advanced MTC with poorer prognosis who do not respond to chemotherapy. Procalcitonin may in the next future replace calcitonin as serum diagnostic marker of MTC. Recent evidence based data seem to suggest the emerging role of functional imaging in recurrent MTC in patients with calcitonin serum levels >150 pg/mL.