Syndromes/associations

Question 1

Name that syndrome:

• Medullary thyroid carcinoma
• Pheochromocytomas
• Primary hyperparathyroidism

Answer 1

MEN 2a

Question 2

Name that syndrome:

• Medullary thyroid carcinoma
• Pheochromocytomas
• Mucosal neuromas
• Ganglioneuromas of the GI tract

Answer 2

MEN 2b

Question 3

• I say MEDULLARY thyroid carcinoma, you say??

- Serum marker for medullary thyroid carcinoma?

Answer 3

• MEN 2 (a or b)

- Calcitonin

Question 4

Light bulb bright lesion on T2

Answer 4

Pheochromocytoma

Question 5

What syndromes are associated with pheos?

Answer 5

• VHL
• MEN 2 (a and b)
• NF1
• Tuberous sclerosis
• Sturge Weber
• CARNEY’S TRIAD (chondromas, extra-adrenal pheo, GIST)

Question 6

Renal lesions in VHL?

Answer 6

• CLEAR CELL RCCs

- Also cysts

Question 7

Renal lesions in tuberous sclerosis?

Answer 7

• AMLs

- RCCs (occur at same rate as gen pop, but in younger pts)

Question 8

I say MEDULLARY renal cell carcinoma, you say??

Answer 8

Sickle cell trait

Question 9

I say CHROMOPHOBE renal cell carcinoma, you say??

Answer 9

Birt Hogg Dube syndrome

Question 10

Pulmonary artery aneurysms:

• Syndrome?
• Other/associated findings?

Answer 10

• Behcets
• Ulcers of penis and mouth
• GI involvement can look like Crohn’s

Question 11

Name that syndrome:

• Pancreatic insufficiency
• Short stature
• Eczema

Answer 11

Schwachman-Diamond syndrome

Question 12

• Bilateral renal AMLs?

- What else should you find in the chest?

Answer 12

• Tuberous sclerosis

- Multiple thin-walled cysts (lymphangioleiomyomatosis, or LAM) and a heart mass (rhabdomyoma)

Question 13

I say optic nerve glioma, you say??

Answer 13

NF1 or von-recklinghausen

Question 14

VHL hits what 4 organs?

Answer 14

• Kidneys (RCCs, cysts)
• Adrenals (Pheo)
• Pancreas (neuroendocrine tumores, cystadenomas, and cysts)
• CNS (hemangioblastomas, endolymphatic sac tumors - vestibular aqueduct)

Question 15

NF2 mnemonic?

Answer 15

“miss me”? (MISME)

• Multiple Inherited:
• Schwannomas
• Meningiomas
• Ependymomas

Question 16

Name that syndrome:

Multiple lung cysts and bilateral oncocytomas…

Answer 16

Birt-Hogg-Dube

- Also CHROMOPHOBE RCCs

Question 17

Name that syndrome:

• Extra-adrenal pheo
• GIST
• pulmonary hamartomas (chondroma)

Answer 17

Carney triad

not Carney complex = cardiac myxoma and skin pigmentation

Question 18

Name that syndrome:

• Pituitary adenoma
• Gastrinoma
• Parathyroid adenoma

Answer 18

MEN 1

- Gastrinoma = pancreatic islet cell tumor