A 36-year-old woman presents with swelling in her neck that she first noticed 3 months ago. She also complains of intermittent watery diarrhea over the same time period. Physical examination reveals a nontender nodule in the left lobe of the thyroid. The patient's mother died of thyroid cancer 8 years ago. The thyroid nodule is found to be "cold" by radioiodine scintiscan. A needle biopsy of the nodule reveals malignant cells and homogeneous eosinophilic material The tumor in the patient described in Question 38 is removed, and a section stained with Congo red reveals birefringent amyloid stroma. Genetic studies show that this patient has a familial cancer syndrome. In addition to hyperparathyroidism, the patient is advised that she is at risk of developing which of the following neoplastic diseases?
Patients with the familial form of medullary carcinoma are often affected with MEN-2, which includes pheochromocytoma of the adrenal medulla and parathyroid hyperplasia or adenoma. Somatic mutations of the RET protooncogene are found in patients with MEN-2A, and RET mutations have been detected in 25% to 70% of cases of sporadic medullary thyroid carcinoma. None of the other choices are encountered in patients with MEN-2.Diagnosis: Multiple endocrine neoplasia
Craniopharyngioma
Follicular adenoma of thyroid
Neuroblastoma
Pheochromocytoma
Endocrine