Multiple endocrine neoplasia Quiz: Ace Your Exams

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A 20-year-old man comes to the clinic complaining of difficulty swallowing. He says that for the past few months he has been having difficulty swallowing solid foods and feels like the food gets stuck in his neck. The patient is able to drink liquids without any problems. Additionally, the patient has noticed several new “bumps” that have appeared along the front and side of his neck. Over the past month, the patient has lost 10 lbs (4.5 kg) and feels progressively more fatigued. The patient’s temperature is 37.0°C (98.6°F), pulse is 80/min, respirations are 14/min, and blood pressure is 115/75 mmHg. Physical examination shows a tall, thin male with a decreased upper to lower body ratio and mild kyphoscoliosis. There are multiple > 1 cm in diameter rubbery lymph nodes along the right lateral neck as well as a 2 cm right upper thyroid nodule. Oral examination reveals the following:

Reproduced from: Wikimedia Commons

Which of the following is the most likely mechanism of this patient’s disease?

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Gain-of-function mutation in a tumor suppressor gene

Gain-of-function mutation in a proto-oncogene

Dominant negative mutation in the profibrillin gene

Loss-of-function mutation in a proto-oncogene

Loss of function mutation in a tumor suppressor gene