Week 6: Endocrine tumors

Question 1

Neuroendocrine tumors arise from what type of cells?

Answer 1

Neuroendocrine cells! Traits of both nerve cells and hormone producing cells

Types/location:
-Carcinoid tumors (GI tract, lung, others)
-Pancreas/islet cells
-Paraganglioma or pheochromocytoma

Question 2

What does it mean if a neuroendocrine tumor is functional?

Answer 2

Produces hormones

Question 3

What does it mean if a neuroendocrine tumor is non-functional?

Answer 3

Doesn’t produce a significant amount of hormones but can still be problematic due to size/location

Question 4

Pheochromocytomas are tumors located where?

Answer 4

In the adrenal medulla

Question 5

Are most adrenal tumors cancerous or benign?

Answer 5

Most are benign (rare to be cancerous), but can be problematic if altering hormone production leading to chronic increased heart rate, etc

Question 6

What is a hereditary syndrome that predisposes to pheochromocytomas and kidney cancer?

Answer 6

VHL!

Also associated with tumors in CNS, retina, endolymphatic cyst in ear, pancreatic, broad ligament (females), epididymis (males)

Question 7

T/F all paragangliomas are pheochromocytomas

Answer 7

False!

All pheos are paragangliomas but not all paragangliomas are pheos

Pheos are just paragangliomas in the adrenal gland

Question 8

What percentage of PCCs/PGLs are hereditary?

Answer 8

30-50%
Highest % hereditary for any cancer type

Question 9

T/F There is no histology or test to distinguish PCC/PGL as benign or malignant

Answer 9

True

Usually call them benign until metastasize, gene testing most useful for prognosis and monitoring

Question 10

Secreting PCCs/PGLs can cause a variety of continual or episodic symptoms due to what?

Answer 10

Surge of catecholamines (associated with fight or flight)

Symptoms include: tachycardia, headaches, pallor, anxiety, profuse sweating, palpitations

Question 11

Describe biopsies for PGL/PCC

Answer 11

-Biopsies for PGLs/PCCs are dangerous!
-Can do more damage due to hormone release
-They are an exception to the diagnostic biopsy rule
-No pathology for diagnosis until surgical resection

Question 12

Are sympathetic paragangliomas functional or non-functional?

Answer 12

Functional! They can cause excessive fight or flight response

Question 13

Are parasympathetic paragangliomas functional or non-functional?

Answer 13

Non-functional

They are still an issue though due to their location in neck–cause hoarseness, ringing ears, etc

Question 14

PCCs/PGLs with SDHB mutations have an especially high or low risk for maligancy?

Answer 14

Very high!

Question 15

What consideration for NF1 patients is important?

Answer 15

They should be screened for pheos and PGLs

Question 16

Pediatric adrenal cortical carcinomas (ACCs) are extremely prevalent (50-80%) in what tumor predisposition syndrome?

Answer 16

Li-Fraumini

Question 17

T/F Pheochromocytoma is another name for adrenal cortical carcinomas

Answer 17

False! ACCs are not pheos, just happen to affect the same spot

Question 18

Primary hyperparathyroidism (PHPT) in someone <45yr could be suspicious for what?

Answer 18

Tumor on parathyroid, MEN1/2

Question 19

What is the gene for MEN type 1?

Answer 19

MEN1

Question 20

What is the gene for MEN2 (2a and 2b)?

Answer 20

RET

Question 21

What 3 characteristics are associated with MEN type 1?

Answer 21

the 3 Ps!
1. Pituitary adenoma
2. Parathyroid adenoma (primary hyperparathyroidism)
3. Pancreatic cancers (endocrine)

Also
-Dermatologic findings (lipomas, angiofibromas, etc)
-Adrenal tumors
-Carcinoid tumors: bronchial, thymic, gastric

Question 22

What characteristics are associated with MEN2a?

Answer 22

-Medullary thyroid carcinoma
-Pheochromocytoma
-Parathyroid adenoma (primary hyperparathyroidism)

Question 23

What characteristics are associated with MEN2b?

Answer 23

-Medullary thyroid carcinoma
-Pheochromocytoma
-Mucosal neuroma (little tongue bump things)
-Marfanoid habitus

Question 24

Describe the do novo rate for MEN2a? MEN2b?

Answer 24

MEN2a: 5%, fairly low

MEN2b: Very high de novo rate! 50% of cases (mostly paternal)

Question 25

Describe survival rate, younger/older dx, sex more highly affected, and race more highly affected for non-medullary thyroid cancer

Answer 25

->98% survival rate
-Dx at younger age than most cancers
-3x more common in females
-70% more common in whites than blacks

Question 26

What is the major risk factor for non-medullary thyroid cancer?

Answer 26

Radiation exposure

Question 27

Why does it matter if someone has a genetic diagnosis for endocrine tumors?

Answer 27

-Medical management impact from dx
-Testing children and prophylactic surgeries for children important to have gene identified
-Insurance coverage

Question 28

What are red flags that prompt genetic evaluation for endocrine tumors?

Answer 28

-Pancreatic neuroendocrine tumors at any age
-MEDULLARY thyroid cancer at any age
-PCC/PGL at any age
-Multiple primaries
-Family hx
-Primary HPT dx <45yr
-Parathyroid carcinoma
-2+ MEN related endocrine tumors in one person

Question 29

What hereditary endocrine syndromes have implications for childhood management/screening?

Answer 29

-VHL
-MEN2
-NF1
-Li-Fraumeni

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