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MEN - Exam 4 Flashcards

1
Q

How are MEN disorders inherited? development of tumors in _____ endocrine glands. Are they benign or cancerous?

A

autosomal dominant traits

two or more

Tumors may be malignant or benign

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2
Q

What is another name for MEN1? What is the mutation in? What is the result? When does it usually manifest by? What are the 3 MC organs involved?

A

Wermer syndrome

mutation in menin

mutation prevents tumor suppression because the role of menin is tumor suppressor protein

manifests by 40

parathyroid
pancreas
anterior pituitary

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3
Q

What is the appropriate imaging for the follow organ/systems? Chest, abdomen, pelvis, brain, parathyroid

A

CT - chest, abdomen, pelvis
MRI - brain
Nuclear scan - parathyroid

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4
Q

What is the primary pt with primary hyperparathyroidism?

A

elderly (60-70) female with elevated calcium

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5
Q

What is the MC initial presentation of MEN1? What age? What gender? How do you confirm tumor location?/

A

Parathyroid tumor occurs in over 90% of patients

20-25 both men and women

nuclear scan

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6
Q

What is the tx for primary hyperparathyroidism? What is the additional tx? What do these pts need to avoid?

A

sx either 3 1/2 PT glands or all 4

cinacalcet

avoid oral calcium and thiazide diuretics because thiazide diuretics retain calcium and excrete K

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7
Q

What is the MOA for cinacalcet?

A

binds to CaSRs in the parathyroid gland, increasing the glands’ affinity for extracellular calcium, thereby decreasing PTH secretion

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8
Q

What does GEP-NET’s stand for? What are the 5 types? Which one is the MC? 2nd MC?

A

Gastro-Entero-Pancreatic NeuroEndocrine Tumors (GEP-NET’s)

**Gastrinoma - MC
**Insulinoma - 2nd MC
Glucagonoma
Vasoactive Intestinal Peptide (Vip) Tumors (VIPomas)
Pancreatic Polypeptide-Secreting Tumors (Ppomas) and Non-functioning Pancreatic NETs

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9
Q

What is the MC MEN pancreatic tumor? How common are they? Specifically, where as they commonly found?

A

Gastrinomas: (gastrin-secreting pancreatic tumor)

Occurs in 40% of patients with MEN1

small, multiple, ectopic most are found in duodenum

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10
Q

What is the function of gastrin?

A

a hormone that stimulates secretion of gastric acid and assists in gastric motility

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11
Q

How do gastrinomas present? ______ further stimulates gastrin secretion

A

s/s due to hyperacidity of stomach so gastritis, PUD, GERD, diarrhea

Hypercalcemia

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12
Q

What are the 4 functions of gastric acid?

A

stimulates gastrin
Gastric secretion
Gastric acid secretion
secretin release

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13
Q

What 5 things stimulate gastrin release?

A

Ingestion of:
peptides
amino acids
gastric distention
an elevated stomach pH
hypercalcemia

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14
Q

Gastrin stimulates secretion of _____ in the cells of the lining of the stomach which _____

A

hydrochloric acid (gastric acid)

lowers the pH.

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15
Q

When gastric acid passes into the _____ it stimulates the release of ____ from duodenal cells due to _____.

A

duodenum

secretin

low pH

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16
Q

Secretin inhibits _____ release, _____, and stimulates ____ release. When the pH in the duodenum _____ it shuts off secretin release

A

gastric acid

gastric motility and secretion

bicarb

ncreases

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17
Q

_____ and _____ work opposite each other

A

secretin and gastrin

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18
Q

What are the 2 lab tests for gastrinomas?

A

fasting serum gastrin

secretin stimulation test

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19
Q

What is normal range for a fasting serum gastrin? _____ is suggestive for gastrinoma but _____ is diagnostic

A

normal range 50-60 pg/mL

> 150 pg/mL is suggestive

> 1000 pg/mL is diagnostic

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20
Q

What is considered a positive secretin stimulation test? **What is the important pt education?

A

(+) results - serum gastrin levels post administration >120 pg/mL over baseline levels

Must d/c PPI 6 days prior and H2 blocker 1 day prior to testing (need to convert PPI to H2 therapy for the appropriate pts)

aka give the pt secretin which theoretically in a normal person should “turn off” gastrin and should see a drop in gastrin levels but in a pt with a gastrinoma gastrin is constantly produced even in the presence of secretin

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21
Q

What is the management of gastinomas?______ is controversial. Why? When it is recommended?

A

Long-term high dose proton pump inhibitor (PPI) w/wo histamine 2 receptor antagonist

treat the hypercalcemia

sx is controversial -> long term outcomes are not definitive

most often recommended to prevent liver metastasis

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22
Q

insulinomas occur in what cell type? What age do they present most often?

A

β-islet cell, insulin-secreting tumors of the pancreas

between 20 and 40

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23
Q

What is the clinical presentation of an insulinoma? When is it worse? When does it improve?

A

hypoglycemic s/s

worse: fasting or exertion

improves: glucose/carb intake

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24
Q

What is the lab test for insulinomas? What is the drawback of this test? Name 2 additional tests with the results you would expect for an insulinoma

A

72 hour fast-> most reliable, assess for hypoglycemic symptoms and blood glucose < 55 mg/dL

requires hospital admission for direct supervision aka its expensive

plasma insulin concentration and C-peptide levels-> both will be elevated

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25
What is the management of an insulinoma? What is an alternative tx?
sx!!!!! medical management while awaiting sx or if not a surgical candidate frequent carb intake oral diazoxide (Proglycem) everolimus (Afinitor)
26
______ is a potassium channel activator. inhibits the secretion of insulin. What type of tumor does it treat?
oral diazoxide (Proglycem) insulinoma
27
_____ is an antitumor agent that induces insulin resistance. What type of tumor does it treat?
everolimus (Afinitor) aka helps bring BS levels up insulinoma
28
What is a glucagonoma? What organ? What is the function of glucagon?
Pancreatic tumor that secretes glucagon hormone formed in the pancreas that promotes the breakdown of glycogen to glucose in the liver. Naturally occurs when the blood glucose drops
29
What is the MC presenting symptom for a glucagonoma?
weight loss - MC presenting symptom hyperglycemia necrolytic migratory erythema stomatitis
30
What is necrolytic migratory erythema
breakdown of skin around all the orifices of the body
31
What are the lab tests for a glucagonoma?
elevated blood glucose elevated fasting blood glucagon level > 150 pg/mL normal fasting is 50-100
32
What is the management for glucagonoma?
Control blood sugar (same as Diabetes Mellitus management) Octreotide Surgical excision
33
When is a surgical excision recommended for a glucagonoma?
recommended if single lesion is localized at the time of diagnosis
34
_____ inhibits glucagon at high doses (also inhibits insulin). What tumor type does it treat?
Octreotide glucagonomas and VIPoma
35
What is a VIPoma? What are the clinical findings?
Pancreatic tumor that secretes vasoactive intestinal polypeptide -severe watery diarrhea -vasodilation (flushing) -inhibition of gastric acid secretion (iron and B12 def, leads to malnutrition) -bone resorption (hypercalcemia and osteoporosis) -enhanced glycogenolysis (high BS)
36
describe the watery diarrhea that would be present in a pt with VIPoma? What happens as a result? How much volume? What a normal stool volume?
tea colored and odorless magnesium and potassium are lost in the diarrhea 400ml is normal stool volume greater than 700ml is present
37
What is the lab test for a VIPoma? What is the normal range?
serum VIP concentration > 75 pg/mL, confirmed by repeat testing normal range 0 −59 pg/mL
38
What is the management of an VIPoma? When is sx an option?
correct fluid, electrolyte and vitamin imbalances aka stablize the pt first octreotide - inhibits VIP - helps control diarrhea surgical excision of primary tumor, if no mets at diagnosis
39
What are Pancreatic Polypeptide-Secreting Tumors(Ppomas) and Non-functioning Pancreatic NETs? When does the problem appear?
These are “non-functioning” tumors that secrete various substances but do not present clinically with a hormonal syndrome Often asymptomatic resulting in metastasis to the liver
40
What is the tx for Pancreatic Polypeptide-Secreting Tumors(Ppomas) and Non-functioning Pancreatic NETs? What is the risk?
sx is controversial but need to consider the chance of metastasis, low chance of mets = sx provides a better prognosis complications that result in iatrogenic diabetes, steatorrhea, early and late dumping syndromes, and other gastrointestinal symptoms
41
MEN1 pituitary adenomas will MC be _______. What is 2nd, 3rd and 4th.
60% secrete prolactin <25% secrete growth hormone 10-20% are nonsecretory but can compress pituitary tissue or optic chiasm 5% secrete ACTH (Cushing dz)
42
What is the testing for a prolactinoma? What is the medication tx?
serum prolactin concentration above 40, slightly high value (20-40) needs to be repeated dopamine agonist
43
What is the testing for excessive GH? What is the medication tx?
GH suppression test: FAILURE of GH to reach less than 0.4 within of 1-2 hours of an oral glucose load octreotide
44
What are the testing for excessive ACTH? What is the medication tx?
Dexamethasone suppression test 24 urine free cortisol late night salivary cortisol pasireotide (Signifor)
45
_______ inhibits ACTH secretion. What type of tumor is it used in?
pasireotide (Signifor) excessive ACTH secretion
46
What is the definitive management for pituitary adenoma?
transsphenoidal adenomectomy +/- radiotherapy for residual unresectable tumor tissue
47
What are some additional types of tumors that are possible with MEN1?
adrenal adenoma carcinoid tumor: of the bronchi, GI, pnacreas or thymus meningioma lipoma Facial Angiofibromas and Collagenomas thyroid tumors
48
Who needs to be screened for MEN1? What is the prognosis?
Two or more MEN 1–associated endocrine tumors First-degree relatives of an MEN1 mutation carrier even if they are asymptomatic genetic testing Decreased life expectancy, with a 50% probability of death by age 50 years
49
What is MEN2 characterized by? What is the other name?
a disorder characterized by a predisposition of medullary thyroid carcinoma (MTC), pheochromocytomas, and parathyroid tumors Sipple syndrome
50
MEN2 is a genetic mutation in the _______. What is the function of that gene? What does a mutation result in?
RET proto-oncogenes RET gene provides instruction for producing a signaling protein within nerve cells Mutation leads to excessive activation resulting in tumor formation
51
the RET gene is expressed in what 3 places? What are the 3 subtypes? Which one is MC?
thyroid, parathyroid, and adrenal glands **MC-> MEN2A: MTC, pheo, para MEN2B (aka MEN 3): MTC, pheo and other skeletal/soft tissue presentations Family medullary thyroid carcinoma (FMTC)
52
_____ is the MC feature of MEN 2A and MEN 2B. Where do the malignant cells originate? What do they secrete?
Medullary Thyroid Carcinoma C-cells of the thyroid calcitonin
53
Give s/s of medullary thyroid carcinoma?
solitary thyroid nodule (75-90% of patients) cervical lymphadenopathy (70%) hoarseness or dysphagia (15%) distant metastasis (5-10%)
54
What are the lab studies do you need to order for medullary thyroid carcinoma?
Serum calcitonin - likely to be elevated with palpable nodule Fine-needle aspiration (FNA) biopsy Genetic testing for RET gene mutation PET scan if mets is suspected **all pts need to be tested for MEN2 genetic testing**
55
For medullary thyroid carcinoma where do early mets metastasize to? What about late mets?
Early mets - cervical lymph nodes Late mets - mediastinal nodes, lung, liver, trachea, adrenal, esophagus, and bone
56
What is the tx for medullary thyroid carcinoma?
Total thyroidectomy followed by lifetime supplemental thyroid hormone
57
______ should be offered to patients with (+)RET mutation without disease. _____ drug class needs to be avoided for medullary thyroid carcinoma
Prophylactic total thyroidectomy Avoid GLP-1 drugs
58
Pheochromocytoma are bilateral in _____ of all MEN2 patients. _____ are bilateral in sporadic cases
60-80% of all MEN2 patients 10% are bilateral in sporadic cases
59
________ are needed at least 10-14 days prior to Pheochromocytoma removal sx.
alpha-blockers
60
What taking priority when thinking about order of removal for MEN2 related tumors?
****Pheo’s need to be removed prior to any other surgical procedures of MEN2 patients
61
high-arched palate pectus excavatum bilateral pes cavus scoliosis All s/s are associated with that type of MEN? What is the name?
MEN2B Marfanoid habitus
62
What are some additional s/s associated with MEN2B?
Neuromas - growth of nerve tissue affecting the eyelids, conjunctiva, nasal/laryngeal buccal mucosa, tongue, and lips Hypertrophied lips Intestinal autonomic ganglion dysfunction
63
How does Intestinal autonomic ganglion dysfunction present like? What MEN is it associated with? What are some common complications?
presents with a history of chronic constipation MEN2B complications of chronic constipation multiple diverticula and megacolon
64
Who needs to be screened for MEN2?
1. All patients with MTC (despite family hx) due to possibility of a de novo germline RET mutation allows genetic testing for asymptomatic relatives 2. Patients with bilateral pheochromocytoma 3. Patients with unilateral pheochromocytoma, particularly if this occurs with increased calcitonin levels
65
How is MEN4 inherited? What is the gene involved?
rare autosomal-dominant cyclin-dependent kinase inhibitor gene (CDKN1B)
66
What tumors are MEN4 pts prone to?
3 Ps: Pancreas, parathyroid, anterior pituitary
67
______ are rare immune endocrinopathies characterized by the coexistence of at least two endocrine gland insufficiencies that are based on autoimmune mechanisms.
Autoimmune Polyendocrine Syndromes (APS)
68
What is APS type 1 known as? How common is it?
juvenile autoimmune polyendocrinopathy VERY RARE only 500 cases reported in literature
69
How is APS type 1 inherited? What gene does it involve? What chromosome?
Autosomal recessive mutations in the AIRE gene found on chromosome 21
70
AIRE gene synthesizes a protein in the _____ called ______
thymus autoimmune regulator
71
What is the job of the autoimmune regulator? What does a mutation of the AIRE gene lead to?
helps T-cells distinguish between self and foreign proteins and destroys autoimmune T-cells Mutation of AIRE gene leads to and overproduction of autoimmune cells which attack the body’s tissue/organs
72
**What is the presentation of APS type 1?
73
Gonadal failure (MC - females) Poor dentition - (hypoplasia of dental enamel) DM-I Thyroid disease Alopecia, vitiligo Intestinal malabsorption, pernicious anemia Chronic hepatitis Nail dystrophy Debilitating diarrhea or obstipation Are all part of the clinical presentation of _____. How is the dx confirmed? What antibodies will be present?
APS - Type I Genetic analysis - AIRE gene mutations confirms diagnosis Antibodies to anti-interferon alpha and omega can be identified in 100% of patients
74
What is the management of APS type 1? What are they at the highest risk for?
Team based approach with specialists treat each individual dz risk of acute addisonian crisis so need to address adrenal insufficiency first!!
75
What is APS type 2 a dysfunction of? What chromosome?
Dysfunction of human lymphocyte antigen (HLA) complex on chromosome 6
76
What is the function of the HLA gene?
HLA gene produces HLA proteins that reside on the surface of most all cells that allow the immune system to recognize the cell as “self”
77
What is the peak age of APS type 2? How common is it? More common in males or female?
Peak age of onset 20-60 years old More common than APS-I affecting 1–2/100,000 More common in females with a 3:1 ratio
78
What is the etiology behind APS type 2?
unknown Thought to be a combination of genetic and environmental factors Strong family history of multiple autoimmune disorders
79
What is the clinical presentation of APS type 2?
80
How do you dx APS type 2? What is the monitoring involved?
Diagnosis of each individual condition is based upon typical clinical presentation and laboratory diagnostics No specific genetic test to confirm dx monitoring: Every 1-3 years - screen for most common abnormalities Comprehensive H&P CBC, metabolic panel, TSH, and vitamin B12 levels
81
What is the management of APS type 2? What are they at the highest risk for?
team based approach treat individual dz including hormone replacement if needed acute addisonian crisis: must make sure pts are treated for this first!!!!
82
What are some differences bettwen APS type1 and APS type 2?
83

Endocrine (14 decks)

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