Updated: 2/28/2020

Multiple Endocrine Neoplasias

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Snapshot
  • A 35-year-old women presents to her primary care physician with 2 months of severe episodes of headache, tremulousness, palpitations, and anxiety. The patient has noted a recent change in her voice, and she has difficulty swallowing solids. On physical exam there is a palpable, nontender swelling in the front of her neck that moves with swallowing. There is no cervical lymphadenopathy. Lab studies show hypercalcemia. An ultrasound of the neck shows irregular calcifications within a mass, and an MRI of the abdomen shows the presence of bilateral adrenal lesions. (Multiple endocrine neoplasia [MEN] type IIA)
Introduction
  • Overview
    • cancer syndrome with several associated endocrine neoplasias
    • 3 MEN types 
      • MEN I
      • MEN IIA
      • MEN IIB
    • all have autosomal dominant inheritance 
  • Epidemiology
    • prevalence
      • MEN I: 1 in 50,000
      • MEN II: 1 in 30,000
  • Prognosis
    • dependent on MEN type and which neoplasias occur in individual patient
Classification
  • MEN I (Wermer syndrome)
    • MEN1 gene mutation
    • clinical definition: presence of 2 of the 3 P's
      • parathyroid tumors
        • increased PTH causes hypercalcemia
          • results in kidney stones
      • pituitary tumors (prolactin or GH)
      • pancreatic islet cell/endocrine tumors
        • Zollinger-Ellison syndrome
          • causes gastric ulcers
        • insulinomas 
        • VIPomas 
          • part of watery diarrhea, hypokalemia, and achlorhydria (WDHA) syndrome
        • glucagonomas 
  • MEN II
    • divided into MEN IIA and IIB
    • common features
      • medullary thyroid carcinoma
      • pheochromocytoma 
      • associated with RET proto-oncogene mutation
        • gain of function mutation
    • MEN IIA (Sipple syndrome) 
      • medullary thyroid carcinoma 
        • secretes calcitonin
      • pheochromocytoma
      • parathyroid tumors
    • MEN IIB
      • medullary thyroid carcinoma
      • pheochromocytoma 
      • oral/intestinal ganglioneuromatosis
        • associated with marfanoid habitus
 Presentation
  • Symptoms
    • dependent on which type of MEN syndrome
    • MEN I
      • flank pain
        • secondary to kidney stones
      • abdominal pain and dark stools
        • secondary to gastric ulcers
      • watery diarrhea
    • MEN II
      • neck pain, dysphagia, and hoarseness
        • secondary to thyroid mass
      • episodic headaches, palpitations, tremulousness, and anxiety
        • secondary to pheochromocytoma
  • Physical exam
    • MEN I
      • costovertebral angle (CVA) tenderness
      • abdominal tenderness
    • MEN II
      • hypertension
      • tachycardia
      • neck mass or palpable thyroid nodule
      • cervical lymphadenopathy
Imaging
  • Ultrasound of neck
    • indications
      • patient with dysphagia or hoarseness
    • findings
      • thyroid nodule 
        • follow up with thyroid scintigraphy (radioactive iodine uptake scan)
  • Magnetic resonance imaging (MRI) or computed tomography (CT) scan of abdomen
    • indications
      • patient with symptoms consistent with pheochromocytoma
    • findings
      • adrenal gland mass
Studies
  • TSH levels
    • to evaluate thyroid function
      • decreased TSH more concerning for malignancy
  • Serum calcitonin
    • tumor marker for medullary thyroid cancer
  • Free serum metanephrine level
    • elevated in pheochromocytoma
    • follow up with 24-hour urin collection
      • increased urine metanephrines
      • elevated vanillyl mandelic acid (due to breakdown of norepinephrine and epinephrine)
  • Serum PTH and calcium levels
    • elevated in parathyroid tumor
  • Serum glucose
    • elevated in glucagonoma
    • decreased in insulinoma
  • Serum glucagon
    • elevated in glucagonoma
  • Serum insulin and C-peptide
    • elevated in insulinoma
  • Serum gastrin
    • increased in gastrinoma
Treatment
  • Medical
    • proton pump inhibitor
      • indications
        • Zollinger-Ellison syndrome
      • modalities
        • omeprazole
        • lansoprazole
  • Surgical
    • thyroidectomy
      • indications
        • medullary thyroid cancer
          • MEN IIA or IIB
      • follow with thyroid hormone supplementation
    • parathyroidectomy
      • indications
        • parathyroid tumor
          • MEN I
    • duodenal-pancreatic surgery
      • indications
        • Zollinger-Ellison syndrome refractory to medical management
        • pancreatic neuroendocrine tumors
    • adrenalectomy
      • indications
        • pheochromocytoma
      • preoperative medications to prevent hypertensive crisis
        • must start with alpha blockade
        • follow with beta blockade
      • modalities
        • complete bilateral adrenalectomy is recommended to reduce risk of recurrence

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(M2.ON.15.183) A 34-year-old patient with a history of anxiety, chronic constipation, chronic headaches, and chronic hypertension presents to the emergency room with severe right flank pain radiating to his scrotum. A urinalysis with stone analysis is performed and the results are shown in figure A. Prior to discharge, it is noted that the patients BP is still 170/110 mmHg. Furthermore, his calcium and PTH levels were both found to be increased. Which of the following representative histology slides of thyroid tissue represents a potential complication of the patients condition?

QID: 104189
FIGURES:
1

Anaplastic thyroid cancer

4%

(1/23)

2

Medullary thyroid cancer

87%

(20/23)

3

Papillary thyroid cancer

0%

(0/23)

4

Lymphoma

0%

(0/23)

5

Follicular thyroid cancer

4%

(1/23)

M 6 E

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(M2.ON.15.33) A 24-year-old man is referred to an endocrinologist for paroxysms of headaches associated with elevated blood pressure and palpitations. He is otherwise healthy, although he notes a family history of thyroid cancer. His physical examination is significant for the findings shown in Figures A, B, and C. His thyroid is normal in size, but there is a 2.5 cm nodule palpable in the right lobe. On further workup, it is found that he has elevated plasma-free metanephrines and a normal TSH. Fine-needle aspiration of the thyroid nodule stains positive for calcitonin. The endocrinologist suspects a genetic syndrome. What is the most likely inheritance pattern?

QID: 104358
FIGURES:
1

Autosomal dominant

68%

(57/84)

2

Autosomal recessive

19%

(16/84)

3

Mitochondrial

1%

(1/84)

4

X-linked dominant

6%

(5/84)

5

X-linked recessive

5%

(4/84)

M 6 E

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