A rare case of large a medullary thyroid cancer (MTC) tumor with extremely elevated calcitonin levels but no signs of metastization was recently reported in the journal Cureus.

“This case report highlights the value of genetic studies on disease prognostication and the need for comprehensive research studies on genomic profiling in MTC to better understand the relationship of different mutations with prognosis and outcome,” the authors said.

The patient was a 62-year-old female who complained of a lump sensation in her neck without additional symptoms, which had been initiated 2 years prior to clinical evaluation. The physical examination uncovered a 4-cm nodule on the right side of the thyroid which moved easily with swallowing.


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There was no evidence of cervical lymphadenopathy and Pemberton’s sign was negative. Ultrasound examination confirmed the presence of a right-sided hypoechoic nodule larger than 4 cm (4.12 cm x 1.84 cm).

The levels of calcitonin and carcinoembryonic antigen (CEA) were increased (8754.0 pg/mL and 29.0 ng/mL, respectively), and tests to thyroid function returned normal results. Moreover, a pan computed tomography scan showed no evidence of metastasis.

After exclusion of pheochromocytoma, the patient underwent total thyroidectomy. She was also treated with levothyroxine postoperatively. At 12 months of follow-up, the patient presented with normal levels of calcitonin (3 ng/mL) and CEA (1.5 ng/mL).

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Large tumors and high (ie, superior to 500 pg/mL) preoperative basal levels of calcitonin are known to be associated with poor prognosis in MTC. However, this case of MTC was relatively ‘benign,’ as described by the study’s authors.

“The relatively benign behavior of this patient’s MTC despite its size and extremely elevated calcitonin levels is thought to be suggestive of certain mutation types in MTC to be more associated with better prognostic outcomes,” they concluded.

In this case, genetic studies were positive for HRAS mutation but negative for RET, PAX8/PPARG, NRAS, and KRAS mutations.

Reference

Pishdad R, Vahidi Rad M, Cespedes L. A benign medullary thyroid cancer. Cureus. Published online January 8, 2022. doi:10.7759/cureus.21038