Updated: 2/28/2020

Multiple Endocrine Neoplasias

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Snapshot
  • 38-year-old women presents to the emergency department with 1 day of severe flank pain. She also notes that she has had intermittent watery diarrhea for the past few weeks. On physical exam the patient has mild abdominal tenderness to palpation, particularly in the epigastric region and upper left quadrant, as well as costovertebral angle (CVA) tenderness. Lab studies show hypercalcemia and an ultrasound shows the presence of a kidney stone. (Multiple endocrine neoplasia [MEN] type I)
Introduction
  • Overview
    • cancer syndrome with severate associated endocrine neoplasias
    • 3 MEN types 
      • MEN I
      • MEN IIA
      • MEN IIB
  • Genetics
    • All MEN syndromes have autosomal dominant inheritance
      • MEN1 gene located on chromosome 11 
      • RET gene located on chromosome 10
  • 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, 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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(M1.EC.15.75) 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? Tested Concept

QID: 106767
1

Familial medullary thyroid cancer (FMTC)

4%

(7/159)

2

Li-Fraumeni syndrome

1%

(1/159)

3

Multiple endocrine neoplasia (MEN) I

9%

(15/159)

4

Multiple endocrine neoplasia (MEN) IIa

78%

(124/159)

5

Multiple endocrine neoplasia (MEN) IIb

6%

(10/159)

M 2 B

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(M1.EC.13.2) 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? Tested Concept

QID: 100303
1

Medullary thyroid carcinoma

6%

(2/31)

2

Pheochromocytoma

16%

(5/31)

3

Parathyroid adenoma

74%

(23/31)

4

Mucosal neuroma

0%

(0/31)

5

Multiple myeloma

0%

(0/31)

M 2 E

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