Multiple Endocrine Neoplasia Type 2

Enlarged 2

Step 1: View clinicals

A 20-year-old woman complains of rapid enlargement of her thyroid gland over the last six months. There is no history of fever, weight loss, dysphagia, hoarseness, or ocular problems. Her medical and surgical histories are unremarkable, although her family history is significant for medullary thyroid cancer diagnosed in her 48-year-old mother just 2 weeks ago. She only drinks socially and has never smoked. A complete blood count and thyroid function tests are within normal parameters.

Step 2: Order all relevant investigations

Thyroid Ultrasound + FNAC

The ultrasound scan shows a solitary hypoechogenic nodule measuring 2 x 3 cm, with multiple microcalcifications. The parathyroid glands appear normal, and there is no evidence of involvement of the regional lymph nodes or mediastinum. Cytology of the aspirate shows nests of eosinophilic polyhedral cells with peripheral palisading in a fibrovascular stroma, with a positive immunohistochemical test for calcitonin.

Serum calcitonin

Serum calcitonin: 310ng/L (<10)

Urine metanephrines

Metanephrine: 0.71 mg/24hr (<1.3) Normetanephrine: 26 mcg/24hr (15-80)

CT Chest + Abdomen

The CT is negative for loco-regional spread, and for distant metastases to the lungs or liver. Both adrenal glands appear to be normal.

Step 3: Select appropriate management

Carrier Determination
Total Thyroidectomy
External Beam Radiotherapy
Lymph Node Dissection

Score: ★★☆