Endocrine Pathology Case Studies


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OBJECTIVE:

Apply your knowledge of endocrine diseases to interpret clinical history, laboratory tests, and pathologic findings for diagnosis of endocrine lesions.

CASE 1

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Clinical History:

A 23-year-old woman has noted a slowly enlarging neck mass for the past 2 years. On physical examination she is found to have a single firm non-tender nodule that appears to be within the right lobe of the thyroid gland. Laboratory studies reveal a serum T4 of 7.2 micrograms/dl (normal 4.8 to 11.2) with TSH of 2.3 mU/mL. Her serum calcitonin is not elevated. An ultrasound examination of her neck suggests a solid mass, while a thyroid scintillation scan reveals decreased uptake within the nodule (a so-called "cold" nodule). She is taken to surgery.

Gross Pathology:

This is an example of a thyroid nodule similar to that found in the patient. It can be difficult to tell a benign from a malignant endocrine neoplasm just from gross appearances. What is the appearance? (hint: the lesion is multifocal) (image 1.1).

Image 1.1

Image 1.2

Image 1.3

Questions:

  1. What criteria do you use to determine if the neoplasm is benign or malignant?
  2. What is the diagnosis?
  3. What is the probable biologic behavior of this lesion?
  4. What are the four major types of thyroid carcinoma? How do they differ microscopically?



CASE 2

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Clinical History:

A 30-year-old healthy active man goes to his physician for a routine check-up for employment at a new job. There are no abnormal physical examination findings. Laboratory studies show a serum calcium of 11.5 mg/dl (normal 8.6 to 10.7) with a serum albumin of 5.1 g/dL and a serum phosphorus of 2.0 mg/dl (normal 2.4 to 4.1), creatinine 1.1 mg/dL, and glucose 77 mg/dL. His Hgb is 14.4 g/dL, Hct 43.4%, MCV 89 fL, platelet count 239,000/microliter, and WBC count 6760/microliter. A chest x-ray is unremarkable. He is taking no medications or vitamins. He denies abdominal pain or bone pain.
What additional laboratory test could you order to help confirm the diagnosis?
A Tc99m Sestamibi scan (the radiotracer is injected intravenously) was performed and is shown in image 2.1

Image 2.1

He is taken to surgery, and a single nodule is identified lateral to the thyroid and removed after frozen section consultation with the pathologist.

Image 2.2

Image 2.3

Differential Diagnosis:

Seen grossly here is another condition that must be distinguished (image 2.4).

Image 2.4

Questions:

  1. What is the diagnosis in this case? What is the diagnosis in image 2.4?
  2. How are these lesions most often detected?
  3. What are the consequences if untreated?
  4. Why was it necessary for the surgeon to identify all four glands?
  5. What are the criteria for malignancy in parathyroid tumors?



CASE 3

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Clinical History:

A 30-year-old woman presented to her physician with a 3 month history of weakness, 3 kg weight loss, and nervousness. Further questioning revealed that she experienced insomnia, excess perspiration, frequent bowel movements, infrequent menses, and heat intolerance during that time. Physical examination reveals a restless woman with warm, moist skin, palmar erythema, fine hair, and a resting pulse rate of 110/minute. On palpation of the neck, the thyroid is diffusely enlarged but nontender. A fine tremor is noted of her outstretched fingers. Deep tendon reflexes are 3+ bilaterally.
Laboratory data reveal a serum T4 of 14.0 micrograms/ml (normal 4.8 to 11.2). A thyroid scan reveals increased uptake in both lobes. A subtotal thyroidectomy is performed. The tissue removed weighs 60 grams (normal thyroid is up to 30 grams) and is symmetrical and soft.

Image 3.1

Image 3.2

Image 3.3

Questions:

  1. What is the diagnosis?
  2. What immunologic mechanism may be at work here?
  3. What neoplasms could produce similar findings?
  4. What therapies are available for this condition?



CASE 4

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Clinical History:

A 30-year-old woman presented to an acupuncturist with complaints of periodic headaches, palpitations, nervousness, and perspiration for the past 2 months. She also reported having lost 4 kg during that time without dieting or a change in appetite. She is referred to a physician. Physical examination reveals vital signs with temperature 37.1 C, pulse 100/minute, respirations 17/minute, and blood pressure 160/110 mm Hg. Laboratory studies show her serum T4 is 7.0 micrograms/dl with normal T3 uptake and T3 of 94 ng/dl (normal range 74-166). What additional tests might prove helpful?

Image 4.1

Image 4.2

Image 4.3

Image 4.4

Image 4.5

Image 4.6

Image 4.7

Image 4.8

Questions:

  1. What is the diagnosis?
  2. Why did the neoplasm turn brown in dichromate fixative?
  3. How would you tell if this were malignant?
  4. What feature would be seen in the cells of this tumor by electron microscopy?
  5. Where else in the body might such tumors arise?
  6. What other tumors could be associated with this lesion when inherited as an autosomal dominant syndrome?



CASE 5

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Clinical History:

A 50-year-old woman came to her physician because she has been bothered by a slowly enlarging, non-tender neck mass in the last 4 months. Physical examination reveals an enlarged, firm, non-tender thyroid with apparent nodularity.
Laboratory data show that her serum T4 is 6.0 micrograms/dl and a thyroid scintillation scan reveals normal uptake. Because of the apparent nodularity, surgery is performed.

Image 5.1

Image 5.2

Image 5.3

Image 5.4

Questions:

  1. What is the diagnosis?
  2. What is the etiology?
  3. Is the lymphoid population polyclonal or monoclonal?
  4. What laboratory studies would have been useful preoperatively?
  5. What are the indications for surgery?
  6. What is the typical clinical course for these patients?
  7. What long-term therapy is needed?
  8. If she is poor and uninsured, how will she pay for it?



CASE 6

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Clinical History:

A 40-year-old truck driver consulted his optometrist because he had experienced recurrent headaches for the past 2 months and was having trouble using rear view mirrors. He thought he needed new glasses. The optometrist astutely recognized that his patient had visual field deficits and referred him to a physician. The physician got a CT scan of the head which showed a 2.5 cm mass involving the sella turcica.

Image 6.1

Image 6.2

Image 6.3

Image 6.4

Questions:

  1. What is the diagnosis?
  2. Why did this lesion present such clinical symptoms? Why did the lesion seen in image 6.3 not produce any symptoms, while the lesion in image 6.4 did?
  3. What are some other syndromes associated with lesions of this nature?
  4. What can be done for therapy?



CASE 7

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Clinical History:

A 40-year-old woman has experienced a weight gain of 6 kg, acne, and increased facial hair over the past 3 months. On physical examination her temperature is 36.9 C, pulse 80/minute, respirations 16/minute, and blood pressure 154/98 mm Hg. She is noted to have truncal obesity, a round face, acne of her face and upper chest, ecchymoses of her arms and legs, purplish abdominal striae, and hirsutism. Hyperpigmentation of the skin and proximal muscular weakness are not apparent. She had not been seeing a physician and was taking no medications prior to this visit to the physician.
Why is the medication history important? What laboratory tests should be ordered?
A CT scan of the abdomen revealed a large retroperitoneal mass. Surgery was performed.

Image 7.1

Image 7.2

Image 7.3

Image 7.4

Image 7.5

Questions:

  1. What is the diagnosis? Where is the origin, compared to case 4?
  2. What do such lesions secrete?
  3. What are the signs of malignancy?
  4. What are the most common sites of metastatic disease?



CASE 8

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Clinical History:

An previously healthy 40-year-old woman presented to her physician with a 2 week history of pain in her neck. On physical examination she has an enlarged, nodular, firm, tender thyroid. Laboratory studies show her serum T4 is 6.9 microgram/dL. No thyroid peroxidase antibodies are detectable. A thyroid scan shows decreased I131 uptake. There was a clinical suspicion of carcinoma, so the thyroid was removed.

Image 8.1

Image 8.2

Image 8.3

Image 8.4

Questions:

  1. What is the diagnosis?
  2. What is the etiology?
  3. How do these patients usually present?
  4. Who gets this disease?
  5. What is the typical clinical course for these patients?


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