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A 38-year-old female presents to her primary care physician with complaints of several episodes of palpitations accompanied by panic attacks over the last month. She also is concerned about many instances over the past few weeks where food has been getting stuck in her throat and she has had trouble swallowing. She denies any prior medical problems and reports a family history of cancer in her mother and maternal grandfather but cannot recall any details regarding the type of cancer(s) or age of diagnosis. Her vital signs at today's visit are as follows: T 37.6 deg C, HR 106, BP 158/104, RR 16, SpO2 97%. Physical examination is significant for a nodule on the anterior portion of the neck that moves with swallowing, accompanied by mild lymphadenopathy. A preliminary work-up is initiated, which shows hypercalcemia, elevated baseline calcitonin, and an inappropriately elevated PTH level. Diagnostic imaging shows bilateral adrenal lesions on an MRI of the abdomen/pelvis. Which of the following is the most likely diagnosis in this patient?
Familial medullary thyroid cancer (FMTC)
Multiple endocrine neoplasia (MEN) I
Multiple endocrine neoplasia (MEN) IIa
Multiple endocrine neoplasia (MEN) IIb
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A 36-year-old female presents to your office with complaints of diarrhea, itching, and occasional flushing episodes for the past several months. Physical examination shows a palpable thyroid nodule and cervical lymphadenopathy. Subsequent work-up is significant for elevated serum calcitonin levels and small calcifications of the thyroid noted on ultrasound. Additionally, she reports a past history of pheochromocytoma and recurrent kidney stones attributed to parathyroid hyperplasia. What is the pathophysiologic origin of this patient's most likely syndrome?
Failed posterior neuropore fusion
Microdeletion at chromosome 22q11
Microdeletion of the long arm of chromosome 7
Germ-line mutation in neural crest cells
Amplification of the N-myc oncogene
A 45-year-old woman comes to see you for a second opinion regarding an upcoming surgery for pancreatic insulinoma. While taking a surgical history, she tells you she previously had a pituitary tumor resected. For which additional neoplasms might you consider testing her?
Medullary thyroid carcinoma