Updated: 11/7/2018

Multiple Endocrine Neoplasias

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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
      • MEN1 gene located on chromosome 11 
      • RET gene located on chromosome 10
        • involved in MEN IIA and B
  • 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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Questions (5)
Lab Values
Blood, Plasma, Serum Reference Range
ALT 8 - 20 U/L
Amylase, serum 25-125 U/L
AST 8-20 U/L
Bilirubin, serum (adult) Total // Direct 0.1-1.0 mg/dL // 0.0-0.3 mg/dL
Calcium, serum (Ca2+) 8.4-10.2 mg/dL
Cholesterol, serum Rec: < 200 mg/dL
Cortisol, serum 0800 h: 5-23 μg/dL //1600 h:
3-15 μg/dL
2000 h: <= 50% of 0800 h
Creatine kinase, serum Male: 25-90 U/L
Female: 10-70 U/L
Creatinine, serum 0.6-1.2 mg/dL
Electrolytes, serum  
Sodium (Na+) 136-145 mEq/L
Chloride (Cl-) 95-105 mEq/L
Potassium (K+) 3.5-5.0 mEq/L
Bicarbonate (HCO3-) 22-28 mEq/L
Magnesium (Mg2+) 1.5-2.0 mEq/L
Estriol, toal, serum (in pregnancy)  
24-28 wks // 32-36 wks 30-170 ng/mL // 60-280 ng/mL
28-32 wk // 36-40 wks 40-220 ng/mL // 80-350 ng/mL
Ferritin, serum Male: 15-200 ng/mL
Female: 12-150 ng/mL
Follicle-stimulating hormone, serum/plasma Male: 4-25 mIU/mL
Female: premenopause: 4-30 mIU/mL
midcycle peak: 10-90 mIU/mL
postmenopause: 40-250
pH 7.35-7.45
PCO2 33-45 mmHg
PO2 75-105 mmHg
Glucose, serum Fasting: 70 - 110 mg/dL
2-h postprandial:<120 mg/dL
Growth hormone - arginine stimulation Fasting: <5 ng/mL
provocative stimuli: > 7ng/mL
Immunoglobulins, serum  
IgA 76-390 mg/dL
IgE 0-380 IU/mL
IgG 650-1500 mg/dL
IgM 40-345 mg/dL
Iron 50-170 μg/dL
Lactate dehydrogenase, serum 45-90 U/L
Luteinizing hormone, serum/plasma Male: 6-23 mIU/mL
Female: follicular phase: 5-30 mIU/mL
midcycle: 75-150 mIU/mL
postmenopause 30-200 mIU/mL
Osmolality, serum 275-295 mOsmol/kd H2O
Parathyroid hormone, serume, N-terminal 230-630 pg/mL
Phosphatase (alkaline), serum (p-NPP at 30° C) 20-70 U/L
Phosphorus (inorganic), serum 3.0-4.5 mg/dL
Prolactin, serum (hPRL) < 20 ng/mL
Proteins, serum  
Total (recumbent) 6.0-7.8 g/dL
Albumin 3.5-5.5 g/dL
Globulin 2.3-3.5 g/dL
Thyroid-stimulating hormone, serum or plasma .5-5.0 μU/mL
Thyroidal iodine (123I) uptake 8%-30% of administered dose/24h
Thyroxine (T4), serum 5-12 μg/dL
Triglycerides, serum 35-160 mg/dL
Triiodothyronine (T3), serum (RIA) 115-190 ng/dL
Triiodothyronine (T3) resin uptake 25%-35%
Urea nitrogen, serum 7-18 mg/dL
Uric acid, serum 3.0-8.2 mg/dL
Hematologic Reference Range
Bleeding time (template) 2-7 minutes
Erythrocyte count Male: 4.3-5.9 million/mm^3
Female: 3.5-5.5 million mm^3
Erythrocyte sedimentation rate (Westergren) Male: 0-15 mm/h
Female: 0-20 mm/h
Hematocrit Male: 41%-53%
Female: 36%-46%
Hemoglobin A1c <=6 %
Hemoglobin, blood Male: 13.5-17.5 g/dL
Female: 12.0-16.0 g/dL
Hemoglobin, plasma 1-4 mg/dL
Leukocyte count and differential  
Leukocyte count 4,500-11,000/mm^3
Segmented neutrophils 54%-62%
Bands 3%-5%
Eosinophils 1%-3%
Basophils 0%-0.75%
Lymphocytes 25%-33%
Monocytes 3%-7%
Mean corpuscular hemoglobin 25.4-34.6 pg/cell
Mean corpuscular hemoglobin concentration 31%-36% Hb/cell
Mean corpuscular volume 80-100 μm^3
Partial thromboplastin time (activated) 25-40 seconds
Platelet count 150,000-400,000/mm^3
Prothrombin time 11-15 seconds
Reticulocyte count 0.5%-1.5% of red cells
Thrombin time < 2 seconds deviation from control
Volume  
Plasma Male: 25-43 mL/kg
Female: 28-45 mL/kg
Red cell Male: 20-36 mL/kg
Female: 19-31 mL/kg
Cerebrospinal Fluid Reference Range
Cell count 0-5/mm^3
Chloride 118-132 mEq/L
Gamma globulin 3%-12% total proteins
Glucose 40-70 mg/dL
Pressure 70-180 mm H2O
Proteins, total < 40 mg/dL
Sweat Reference Range
Chloride 0-35 mmol/L
Urine  
Calcium 100-300 mg/24 h
Chloride Varies with intake
Creatinine clearance Male: 97-137 mL/min
Female: 88-128 mL/min
Estriol, total (in pregnancy)  
30 wks 6-18 mg/24 h
35 wks 9-28 mg/24 h
40 wks 13-42 mg/24 h
17-Hydroxycorticosteroids Male: 3.0-10.0 mg/24 h
Female: 2.0-8.0 mg/24 h
17-Ketosteroids, total Male: 8-20 mg/24 h
Female: 6-15 mg/24 h
Osmolality 50-1400 mOsmol/kg H2O
Oxalate 8-40 μg/mL
Potassium Varies with diet
Proteins, total < 150 mg/24 h
Sodium Varies with diet
Uric acid Varies with diet
Body Mass Index (BMI) Adult: 19-25 kg/m^2
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(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? Review Topic

QID: 106767
1

Familial medullary thyroid cancer (FMTC)

5%

(5/103)

2

Li-Fraumeni syndrome

1%

(1/103)

3

Multiple endocrine neoplasia (MEN) I

11%

(11/103)

4

Multiple endocrine neoplasia (MEN) IIa

73%

(75/103)

5

Multiple endocrine neoplasia (MEN) IIb

9%

(9/103)

M1

Select Answer to see Preferred Response

PREFERRED RESPONSE 4

(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? Review Topic

QID: 101912
1

Failed posterior neuropore fusion

0%

(0/9)

2

Microdeletion at chromosome 22q11

44%

(4/9)

3

Microdeletion of the long arm of chromosome 7

11%

(1/9)

4

Germ-line mutation in neural crest cells

33%

(3/9)

5

Amplification of the N-myc oncogene

11%

(1/9)

M1

Select Answer to see Preferred Response

PREFERRED RESPONSE 4

(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? Review Topic

QID: 100303
1

Medullary thyroid carcinoma

5%

(1/19)

2

Pheochromocytoma

26%

(5/19)

3

Parathyroid adenoma

63%

(12/19)

4

Mucosal neuroma

0%

(0/19)

5

Multiple myeloma

0%

(0/19)

M1

Select Answer to see Preferred Response

PREFERRED RESPONSE 3
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