Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Summer FDTN Exam 2 > Endocrine tumors > Flashcards

Endocrine tumors Flashcards

1
Q

What is Multiple Endocrine Neoplasia type 1 (MEN1)

A

MEN1 gene inactivated= loss of menin tumor suppressor protein function
-Tumors manifest in parathyroid, anterior pituitary, and enteropancreatic endocrine cells

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What causes MEN1

A

MCC is familial: germline mutation passed on from zygote, is in each nucleus, and each target tissue

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

In MEN1, when do tumors actually occur

A

as a result of two hit loss of function of the MEN1 gene
First hit is a small, silent mutation
Second hit is loss of heterozygosity

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Where do MEN1 tumors manifest

A

Hormonal: parathyroid, pancreatic endocrine tumor (gastrinoma, glucagon/VIP/SS), and pituitary tumors (prolactinoma)
Non-hormonal: foregut carcinoid (thymic, bronchial)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

An example of MEN1 dispersed tumors in one organ is

A

manifestation of cushing’s syndrome (Cortisol secreting microadenoma)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are ways you can specifically treat some MEN1 tumors

A

Thymus: cervical thymectomy
PT: subtotal parathyroidectomy
Gastrin: No surgery! PPI

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Non-classic MEN1 tumors include

A 
dermal lesions (facial angiofibroma, collagenoma) 
cutaneous and visceral lipomas
smooth muscle (esophageal, uterine)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is MEN2

A

autosomal dominant mutation of RET proto-oncogene

-Mutation= RET does not need ligand bind to activate!

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is RET proto-oncogene

A

a receptor tyrosine kinase that activates intracellular pathways
is activated by ligand receptor binding

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the different areas MEN2 tumors manifest

A

Type 2a: medullary thyroid, pheochromocytoma*, hyperPTH

Type 2b: medullary thyroid, pheo, multiple neuromas, marfanoid habitus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Explain a MEN2a pheochromocytoma

A

MC in adrenal gland
50% are bilateral
Produce Epi, or Epi&NE

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is hyperparathyroid-Jaw tumor syndrome

A

germline inactivation of CDC73/HRPT2 tumor suppressor gene= loss of parafibromin tumor suppressor fxn
Dx difficult 2/2 incomplete and variable penetrance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are target tissues for hyperparathyroid-jaw tumor syndrome

A

parathyroid (hyper PTH**) (parathyroid cancer)
jaw (ossifying tumors)
kidney (b/l renal cysts)
uterus

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is parathyroid carcinoma

A

rare, highly morbid endocrine neoplasm (hard to tell from benign tumor)
Death MC 2/2 intractable hypercalcemia, dehydration, coma

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

How can you attempt to treat parathyroid carcinoma

A

remove en bloc at 1st operation

if resection incomplete, high rate of recurrence from local or distant mets (lung, cervical nodes, liver)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is Von Hippel-lindau syndrome

A

autosomal dominant d/o of VHL tumor suppressor gene
-defective pVHL cells overproduce HIF= overproduction of vascular endothelial growth factor (HIF target)
(usually, pVHL degrades hypoxia inducible factors)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Tumors associated with VHL syndrome include

A 
CNS hemangioblastoma 
retinal hemangioblastoma 
pancreatic cysts 
kidney cancer/cysts 
pheo (MC in adrenal medulla)
endolymphatic sac tumor 
**All produce NE!
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What is Neurofibromatosis type 1

A

Mutation of NF1 tumor suppressor gene, leading to truncated neurofibromin (does NOT inhibit ras)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What is ras

A

a G protein involved in tumorigenesis

neurofibromin usually turns it off. but when NF1 is mutated, it can not turn it off

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What tumors are associated with NF type 1

A 
Pheo (Epi&NE producing) 
Neurofibromas (2+) 
optic glioma 
lisch nodule (2+)
cafe au-lait macules (6+)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What are succinate dehydrogenase related PHEO’s

A

pheos usually in younger ages, extra-adrenal, multiple, and metastatic
Can secrete only dopamine

22
Q

What is the difference between the two SDH pheos

A

SDHB: MC extra-adrenal, secrete NE and Dop, malignant either at dx or follow up. 10% FHx
SDHD: Most are head/neck PGLs, do not secrete catecholamines, and >99% benign

23
Q

What are neuroendocrine tumors (NET) / rare endocrine tumors

A

heterogenous neoplasms from amine and peptide producing cells of neuroendocrine system
functional or non-functional
arise sporadically or along w/ hereditary syndrome

24
Q

Where do NET/rare endocrine tumors arise

A

respiratory tract, pancreas, anywhere along GI (including appendix)

25
Q

What clinical syndromes are related to NET

A 
carcinoid syndrome 
gastrinoma
insulinoma
glucagonoma 
VIPoma 
Somatostatinoma
26
Q

What is carcinoid syndrome

A

tumor secretes serotonin and other vasoactive peptides (histamine, tachykinins, kallikrein, prostaglandins)
Test: urinary excretion of 5HIAA (serotonin metabolite)

27
Q

What are Sx of carcinoid syndrome

A

flushing
diarrhea
wheezing
right valvular heart disease (tricuspid, pulmonary valve)

28
Q

What is a gastrinoma

A

Functional NET that secretes gastrin (stimulates gastric acid secretion)
Test: high gastrin&low stomach pH. check secretin test and gastrin will rise (normal response is to decrease)

29
Q

What are Sx of a gastrinoma

A

zollinger-ellison syndrome: abd pain (PUD, GERD), and diarrhea

30
Q

What is an insulinoma

A

NET of beta cells of pancreas (0.5-2cm)

Tumor cells still synthesize and secrete insulin, but do NOT respond to normal feedback mechanisms

31
Q

What are Sx of an insulinoma

A

Hypoglycemia

High insulin w/ low blood glucose

32
Q

What is the “whipple’s triad” (insulinoma)

A 
Fasting hypoglycemia (<50) 
Neuroglycopenic Sx (confusion, HA, blurry vision, Sz, amnesia, coma) 
Improvement after glucose replacement
33
Q

Clinical features of an insulinoma include

A

Insulin, c-peptide, and proinsulin levels not suppressed with hypoglycemia

34
Q

How do you diagnose an insulinoma

A

72 hour fast (NPO except non-kcal drinks and essential meds)
Baseline and completion glucose, insulin, proinsulin, c-peptide, sulfonylurea screen, and ketones (also glucagon, cortisol, and GH)
Draw glucose, insulin, c-peptide q4-6 hrs
when BG <60, draw q1 hr
End test when pt reaches BG <45 w/ neuroglycopenic Sx, or at 72 hrs

35
Q

What are the hypoglycemia Sx categories

A

1 (mild): hunger, sweating, nausea
2 (mod): HA, irritable, fatigue
3 (severe): blurred vision, confusion, unresponsive

36
Q

What diagnostic imaging can confirm insulinoma

A 
Triphasic CT abdomen 
Endoscopic US (w/ bx)
37
Q

What is a calcium stimulated arteriogram

A

arteriogram on splenic artery (supplies pancreas body/tail), gastroduodenal artery (supplies head), and SMA (supplies uncinate process)

38
Q

How do you treat an insulinoma

A

-MC open surgery- enucleate small benign tumors when clearly localized before surgery, near or at pancreatic surface

39
Q

What is a “small benign tumor”

A

red/brown w/ surrounding yellow pancreas

have pseudocapsule e/ clear plane of dissection (well differentiated)

40
Q

What are non-surgical ways to treat an insulinoma

A

Frequent snack (avoid hypoglycmeia)
Diazoxide (acts on bets cells to suppress insulin secretion)
Octreotide (SS analog) if hypoglycemia refractory to Diazoxide
Verapamil
Phenytoin
Everolimus

41
Q

What are ADE of Diazoxide

A

marked edema
hirsutism
weight gain

42
Q

What is the survival rate of patients with an insulinoma

A

not much different than an average person

worse if malignant, elderly, or diagnosed early

43
Q

What is a VIPoma

A

NET that secretes VIP (vasoactive intestinal peptide)
AKA verner-morrison syndrome/pancreatic cholera
Test: VIP level

44
Q

What is WDHA syndrome (VIPoma)

A

watery diarrhea, hypokalemia, achlorhydria

45
Q

What is a glucagonoma

A

NET secreting glucagon

Test glucagon level

46
Q

What Sx are associated with glucagonoma

A

migratory necrolytic erythema
hyperglycemia
diarrhea
thromboembolism

47
Q

What is a somatostatinoma

A

NET secreting somatostatin (primarily inhibitor)

Test SS level

48
Q

What are Sx of a somatostatinoma

A

diabetes
gallbladder dz
diarrhea
(all ADE of SS analogs used to treat acromegaly!)

49
Q

What do you do if biochemical testing comes back positive

A

Pursue CT or MRI, or functional imaging (PET, octreoscan)

50
Q

Most rare endocrine tumors are in the

A

abdomen

Summer FDTN Exam 2 (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions