Case Report: A Challenging Clinical Problem of Calcitonin-Negative Medullary Thyroid Cancer Diagnosis and Surveillance.

Medullary carcinoma of the thyroid is a rare neuroendocrine carcinoma that originates from the malignant proliferation of parafollicular C cells. In almost 100% of the cases, medullary carcinoma of the thyroid is associated with high levels of calcitonin and carcinoembryonic acid (CEA). Both carcinoembryonic antigen and calcitonin are used for the diagnosis and surveillance of medullary carcinoma of the thyroid. Calcitonin-negative medullary carcinoma of the thyroid is an extremely rare entity that is characterized by classic medullary carcinoma of the thyroid morphology without raised serum calcitonin levels. We describe the case of a middle-aged lady who presented with a few-month history of neck swelling associated with compressive symptoms. CT of the neck showed a large right thyroid nodule with central necrosis and retrosternal extension to the superior mediastinum. There was also a 360-degree encasement of the right common carotid artery. She underwent fine needle aspiration (FNAC) of the right thyroid nodule, and histopathology showed typical features of medullary carcinoma of the thyroid. Immunohistochemical staining for calcitonin and carcinoembryonic antigen was negative but positive for other neuroendocrine markers, i.e., synaptophysin and chromogranin A. Serum calcitonin and carcinoembryonic antigen levels were also in the normal range. So, a rare diagnosis of calcitonin-negative medullary carcinoma of the thyroid was made. As the disease was inoperable because of vascular encasement, a plan for external beam radiation therapy (ERBT) to the neck was made. Medullary carcinoma of the thyroid with normal serum levels of calcitonin is a very rare entity, with only a few cases reported in the literature. In this case report, we have presented a rare case of medullary thyroid carcinoma (MTC) with normal-range serum calcitonin levels, how it was diagnosed, and how to follow up postoperatively.