A patient with multiple endocrine neoplasia type 2B (MEN2B) experienced persistently elevated levels of calcitonin and enlarged cervical lymph nodes despite undergoing radical thyroidectomy with multiple lymph node resections to treat medullary thyroid carcinoma (MTC), according to a recently published case report in JCEM Case Reports.

The autosomal dominant hereditary cancer syndrome MEN2B is characterized by the coexistence of MTC with other comorbidities such as pheochromocytoma, mucosal neuromas, and marfanoid features. RET mutations are present in over 98% of patients with MTC and MEN2B. Calcitonin levels are elevated in practically all patients, and the concentration directly correlates with a tumor mass.

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The case involved a 16-year-old male who presented with a visible solid 0.5×0.3-cm neck mass. Further physical examination revealed marfanoid habitus and mucosal neuromas in the anterior third of the tongue.

A neck ultrasound showed a hypoechoic, solid, irregular thyroid mass with multiple calcifications and hypervascularity. Several enlarged cervical lymph nodes with hypervascularity, necrosis, and calcification were also discovered on ultrasound. Routine laboratory testing and thyroid function tests were unremarkable.

In light of the findings, the attending physicians performed a fine needle aspiration of the mass, revealing large hyperchromatic cells in clumps suggestive of thyroid cancer. The patient was referred to a specialized center where laboratory findings revealed elevated calcitonin levels (465 pg/mL). The patient underwent a total thyroidectomy with multiple lymph node removal.

“The biopsy revealed medullary thyroid carcinoma with cervical lymph node secondaries (bilateral multiple foci in both lobes),” the authors wrote.

The patient was discharged and ordered to return in 1 month for a follow-up. Ultrasonography performed 1 month after surgery revealed residual thyroid tissue and 2 large cervical nodes. Laboratory workup revealed persistently elevated calcitonin levels, although they were inferior to presurgical values.

Finally, the patient underwent a second surgery in which the residual thyroid tissue and pathological nodes were removed. Follow-up 1 month later revealed new enlarged lymph nodes, elevated calcitonin levels, and uptake on positron emission tomography of the head and thorax.


Mohammed AG. Difficult situation in treatment of medullary thyroid carcinoma in patient with multiple endocrine neoplasia type 2 B(MEN2B). JCEM Case Rep. 2023; Published online January 27, 2023. doi:10.1210/jcemcr/luac014.062