questions 5

Multiple Endocrine Neoplasias

Topic updated on 09/07/17 3:25pm

Snapshot
  •  A 36-year-old women complains of severe episodes of headache, tremulousness, palpitations, and anxiety. The patient has noted a change in her voice and she has difficulty swallowing solids. On PE there is a palpable, nontender swelling in the front of her neck that moves with deglutition. There is no cervical lymphadenopathy. Lab studies show hypercalcemia. An X-ray of the cervical region shows irregular calcifications in mass, while an MRI of the abdomen confirms the presence of bilateral adrenal lesions.  (MEN Type IIA)
Introduction
  • Cancer syndrome with several associated endocrine neoplasms
    • concurrence occurs secondary to each organ's common embryologic origin
    • germ-line mutation in neural crest cells leads to tumors in adrenal medulla and thyroid, as both chromaffin and parafollicular C-cells originate in the neural crest 
  • Genetics
    • All MEN syndromes have AD inheritance
  • There are 3 types (see below)
    • MEN I (Wermer's syndrome)
    • MEN IIA (Sipple's syndrome)
    • MEN IIB
      • MEN IIa and IIb share several common features (the reason it is not MEN II and III)
        • medulllary thyroid carcinoma
        • pheochromocytoma
        • ret association
MEN I (Wermer's Syndrome)
  •  Characterized by
    • parathyroid tumors 
    • pituitary tumors (prolactin or GH)
    • pancreatic islet cell/endocrine tumors 
      • Zollinger-Ellison (ZE) syndrome
      • insulinomas
      • VIPomas
      • glucagonomas
  • Presentation  
    • gastric ulcers
      • secondary to gastrin production by ZE syndrome
    • kidney stones
      • secondary to increased serum calcium as a result of increased PTH
MEN IIA (Sipple's syndrome)
  •  Characterized by 
    • medullary thyroid carcinoma
      • secretes calcitonin
    • pheochromocytoma
    • parathyroid tumors
  • Genetics
    • associated with proto-oncogene ret 
      • tyrosine kinase
MEN IIB
  • Characterized by
    • medullary thyroid carcinoma
    • marfanoid habitus
    • mucosal neuromas
    • pheochromocytoma
    • oral/intestinal ganglioneuromatosis
  • Genetics
    • associated with loss of ret 


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Qbank (3 Questions)

TAG
(M1.EC.2) 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? Topic Review Topic

1. Medullary thyroid carcinoma
2. Pheochromocytoma
3. Parathyroid adenoma
4. Mucosal neuroma
5. Multiple myeloma

PREFERRED RESPONSE ▶
TAG
(M1.EC.18) 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? Topic Review Topic

1. Failed posterior neuropore fusion
2. Microdeletion at chromosome 22q11
3. Microdeletion of the long arm of chromosome 7
4. Germ-line mutation in neural crest cells
5. Amplification of the N-myc oncogene

PREFERRED RESPONSE ▶
TAG
(M1.EC.75) 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? Topic Review Topic

1. Familial medullary thyroid cancer (FMTC)
2. Li-Fraumeni syndrome
3. Multiple endocrine neoplasia (MEN) I
4. Multiple endocrine neoplasia (MEN) IIa
5. Multiple endocrine neoplasia (MEN) IIb

PREFERRED RESPONSE ▶
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