Diagnosis and treatment of four patients with medullary thyroid carcinoma

Abstract

Patients presenting with a suspected medullary thyroid carcinoma （MTC） undergo preoperative testing which can include fine needle aspiration cytology （FNAC） together with calcitonin and carcinoembryonic antigen （CEA） testing. In addition, both the US and Japanese Guidelines for MTCs currently recommend preoperative genetic testing to determine whether the carcinoma is sporadic or hereditary because one-third of MTCs are hereditary and are linked to RET gene mutations. Sporadic MTCs can be treated by a hemithyroidectomy while hereditary MTCs should be removed by a total thyroidectomy including removal of associated lymph nodes. We describe herein four such patients who were ultimately confirmed to have an MTC, and the course of their treatment including those who underwent RET genetic testing. While not all of our patients underwent RET genetic testing, our experience demonstrates that RET genetic testing is an essential tool which should be included in the preoperative diagnostic surgical planning of patients presenting with MTCs.