Introduction and Overview of MTC Diagnosis Challenges

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Moderator Ezra Cohen, MD, introduces a panel discussion on managing patients with medullary thyroid cancer (MTC) effectively in an endocrinology and oncology setting. The discussion includes perspectives from the leading experts and frontline practitioners Eric J. Sherman, MD, Steven I. Sherman, MD, R. Michael Tuttle, MD, and Lori J. Wirth, MD.

A variety of methods and guidelines have emerged to diagnose patients with MTC, explains Steven Sherman. In general, these tumors are diagnosed through fine needle aspiration or prospective screening as a result of familial MTC or MEN 2. Patients with these syndromes can be diagnosed in a preclinical state through genetic screening and biochemical assessments of the marker calcitonin, explains Steven Sherman.

As a rare disease, distinct challenges face the accurate diagnosis of patients with MTC, particularly the awareness of the disease. In general, these tumors present as common thyroid nodules that are noticed either by a primary care physician or by the patient, Tuttle notes. From here, patients are either referred to see an endocrinologist or directly to biopsy. Once biopsied, results are usually read as atypical or suspicious, since MTC is not generally the first thought. Once MTC is suspected, serum calcitonin can be utilized to confirm the diagnosis.

In some cases, primarily in Europe, the measurement of calcitonin is being recommended for every patient with a thyroid nodule, Tuttle notes. However, this approach has not been embraced in the US, due to false positive rates associated with hypoparathyroidism, Hashimoto’s thyroiditis, and proton pump inhibitors. Rather than testing all patients, specific symptoms can be utilized that suggest a diagnosis of MTC, explains Tuttle, such as the presence of a thyroid nodule and diarrhea.