Brainscape's Knowledge GenomeTM

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


See full index

(C) CM 1A: Heme/Onc/Endo > Lecture 28: MEN Disorders > Flashcards

Lecture 28: MEN Disorders Flashcards

1
Q

How are MEN disorders inherited?

A

Autosomal Dominant

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

What defines a MEN disorder?

A

Tumors in 2+ endocrine organs

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

What is MEN1 also known as?

A

Wermer syndrome

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

What do 90% of MEN1 disorders have in common in terms of gene mutation?

A

Germline mutation in the menin gene.

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

What is the function of menin?

A

Tumor suppression

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

What age do most people show manifestations of MEN1 by?

A

40

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

What are the MC organs affected in MEN1?

A
  • Parathyroid
  • Pancreas
  • Pituitary (anterior)

3 P’s

MEN have 1 Penis that Pees and Pisses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What imaging modality should be used to search for MEN1 tumors?

A

CT/MRI

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

What is the MC initial presentation for a majority of MEN1 patients?

A

Primary hyperparathyroidism (PHPT)

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

What is the key difference between regular PHPT and PHPT due to MEN1?

A

MEN1 PHPT is usually much earlier in onset, 20-25.

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

What two scans can help locate the tumor in the parathyroid for MEN1?

A

US and nuclear scan for thyroid/parathyroid.

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

What are the 2 surgical options for PHPT? Risks?

A
  • Partial: 3.5 glands removed w/ risk of surgical failure.
  • Full w/ autotransplantation: risk of permanent hypoparathyroidism
  • Overall: surgical failure, recurrence, and ectopic parathyroid tissue are common.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What are the nonsurgical options for PHPT due to MEN1?

A
  • Oral cinacalcet
  • Avoid oral calcium and thiazides.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What are the 5 GEP-NETs?

Gastro-entero-pancreatic neuro-endocrine tumors

A
  • Gastrinoma (MC)
  • Insulinoma (2nd MC)
  • Glucagonoma
  • VIPoma (Vasoactive intestinal peptide)
  • Ppomas and non-functioning pancreatic NETs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What do gastrinomas secrete and where are they usually found?

A
  • Secretes gastrin, which stimulates secretion of gastric acid and motility.
  • Found in the duodenum
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What is zollinger-ellison syndrome?

A

Gastrinomas with hypersecretion of gastric acid and recurrent peptic ulcers.

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

What is the clinical presentaiton of someone with a gastrinoma?

A
  • Hyperacidic stomach
  • PUD
  • GERD
  • Diarrhea
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What inhibits gastrin release?

A

Secretin

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

What fasting serum gastrin is diagnostic for a gastrinoma?

A

> 1000 pg/mL

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

What test can be performed to check for a gastrinoma?

A

Secretin stimulation test, which is positive if serum gastrin levels stay > 120 pg/mL over baseline levels.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What meds can affect a secretin stimulation test?

A

PPI/H2 blockers.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

How do we manage a gastrinoma?

A
  • Long-term PPI w or w/o H2 blocker
  • Control hypercalcemia
  • Surgery usually only recommend to prevent liver mets.

PPIs: Omeprazole, Esomeprazole
H2 Blockers: Cimetidine, Famotidine

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is the origin cell of an insulinoma?

A

Beta cell in the islets of Langerhans

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What is the main clinical finding of an insulinoma?

A

Hypoglycemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

How do we evaluate for an insulinoma?

A
  • 72-hour fast in the hospital.
  • Plasma insulin should rise
  • C-peptide should rise
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

How do we manage an insulinoma?

A
  • Surgical removal RECOMMENDED
  • Med tx while awaiting surgery
  • Frequent carb intake
  • Oral Diazoxide (K-channel inhibitor that inhibits insulin secretion)
  • Octreotide: at high doses, inhibits insulin and other hormones. Often used as a diazoxide alternative.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is the clinical presentation of a glucagonoma?

A
  • Weight loss (MC)
  • Hyperglycemia
  • Necrolytic migratory erythema
  • Stomatitis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

How do we evaluate for a glucagonoma?

A
  • Elevated BG
  • Elevated fasting blood glucagon levels > 150 pg/mL
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

How do we manage a glucagonoma?

A
  • Control BG
  • Octreotide (also inhibits glucagon)
  • Surgical excision if a single lesion can be localized.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

What are the clinical findings associated with a VIPoma?

A
  • Hypokalemia
  • Hypomagnesemia
  • Tea colored and odorless diarrhea
  • Vasodilation (Flushing)
  • Iron/B12 deficiencies
  • Hypercalcemia
  • Osteoporosis
  • Hyperglycemia
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What diagnoses VIPoma?

A

Serum VIP conc > 75 pg/mL with repeat testing to confirm.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

How do we manage a VIPoma?

A
  • Correct imbalances
  • Octreotide
  • Surgical excision of primary tumor if NO mets.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

What is the main concern with a Ppoma?

A

Mets to the liver.

No hormone syndrome generally present.

34
Q

How do we manage a Ppoma?

A
  • If low mets likelihood: excise tumor
  • If surgery risky, avoid bc loss of pancreatic tissue can be devastating
35
Q

How do most pituitary adenomas present in terms of size in MEN1?

A

Macroadenoma > 1cm in diameter

36
Q

What is the MC pituitary adenoma in MEN1?

A

Prolactinoma (60%)

37
Q

How does a prolactinoma present in females?

A
  • Galactorrhea
  • Amenorrhea
  • Infertility
38
Q

How does a prolactinoma present in males?

A
  • Loss of libido
  • Impotence
  • Gynecomastia
  • Infertility
  • Galactorrhea??
39
Q

What is the 2nd MC pituitary adenoma in MEN1?

A

GH

40
Q

How do we manage a pituitary adenoma?

A
  • Selective transsphenoidal adenomectomy
  • Prolactinoma: cabergoline
  • GH/acromegaly: octreotide
  • Excessive ACTH: Pasireotide
41
Q

When is surgery for an adrenal adenoma indicated?

A

Malignancy, aka > 4cm in diameter

42
Q

What is recommend to treat a carcinoid tumor?

A

Surgical excision

43
Q

What is the recommended treatment for a meningoma?

A

Refer to neurosurgery so they can decide.

44
Q

What is a facial angiofibroma or collagenoma?

A

A tumor of fibrous or collagen tissue.

45
Q

What are the screening recommendations for MEN1?

A
  • 2+ MEN1 endocrine-related syndromes present
  • First-degree relative of a MEN1 mutation carrier even if asymptomatic.
46
Q

How is MEN1 screened?

A

Direct DNA testing for MEN1 gene mutations.

47
Q

What is MEN2 also known as?

A

Sipple syndrome

48
Q

What characterizes a MEN2 disorder?

A
  • Medullary thyroid carcinoma (MTC)
  • Pheo
  • Parathyroid tumors

MTC-Pheo-Para

Men have 2 Pee!

49
Q

What mutation characterizes MEN2?

A

RET proto-oncogene mutations

50
Q

Where are RET genes found? Function?

A
  • Thyroid, parathyroid, and adrenal glands
  • Produces a signaling protein within nerve cells
  • Excessive activation of the protein causes tumor formation.
51
Q

What are the 3 types of MEN2 disorders?

A
  • MEN2A: MTC, pheo, para
  • MEN2B (MEN3): MTC, pheo, skeletal/soft tissue
  • Familial MTC only
52
Q

What feature is shared in all MEN2 subtypes?

A

MTC

53
Q

What is the primary feature of MTC?

A

Increased secretion of calcitonin

A functional parathyroid is still able to counteract the effects.

54
Q

What are the clinical findings associated with MTC?

A
  • Solitary thyroid nodule
  • Cervical LAN
  • Hoarseness/dysphagia
  • Distant Mets
55
Q

What diagnostic studies should we order for suspected MTC? Expected results?

A
  • Serum calcitonin: elevated if nodule palpable
  • FNA Biopsy
  • Genetic testing for RET gene
  • PET scan for mets suspicion
56
Q

Where does mets tend to begin if it originates from MTC?

A

Cervical lymph nodes

Most local regional nodes.

57
Q

What is the treatment for MTC?

A
  • Total thyroidectomy with lifetime LT4
  • Prophylactic total thyroidectomy offered to people with + RET but are asymptomatic
  • AVOID GLP-1 DRUGS!!!!!!!!!!!!!!!!!
58
Q

How does pheo tend to present in MEN2?

A

BILATERAL in 60-80% of cases

59
Q

What is the classic triad that suggests pheo?

A
  • Episodic sweating
  • HA
  • Tachycardia
60
Q

How do we treat Pheo?

A
  • Alpha blockade prior to sx (10-14d)
  • Surgical removal FIRST (prior to any other tumor in MEN2)
61
Q

What clinical presentations might be found in MEN2B specifically?

A
  • Marfanoid habitus
  • Neuromas (eye, conjunctiva, nasal/laryngeal/bucca mucosa, tongue, lips)
  • Hypertrophied lips
  • Intestinal autonomic ganglion dysfunction (chronic constipation)
62
Q

What are some possible complications for MEN2B pts with chronic constipation?

A
  • Multiple diverticula
  • Megacolon
63
Q

What are the screening recommendations for MEN2/3?

A
  1. All patients with MTC (possible de novo mutation)
  2. All patients with MTC + family Hx of associated tumors
  3. All patients with MTC + Pheo even without FMHx.
  4. All patients with bilateral Pheo
  5. All patients with unilateral pheo, esp if associated increased calcitonin levels.
64
Q

What causes MEN4?

A

Germline mutation in CDKN1B

65
Q

How is MEN4 similar to MEN1? Different?

A
  • Similar: prone to the same tumors.
  • Different: additional tumor propensity, such as adrenal, renal, testicular, and neuroendocrine cervical carcinoma
  • Primary ovarian failure
66
Q

What is autoimmune polyendocrine syndrome or polyglandular autoimmune syndrome (PGA syndromes)?

A

Rare immune endocrinopathies characterized by coexistence of 2+ insufficiencies due to autoimmune mechanisms.

67
Q

What is PGA syndrome type 1 also known as?

A

Juvenile PGA

68
Q

What causes PGA type 1?

A

AIRE (autoimmune regulator gene) gene mutation on chromosome 21.

69
Q

What is the function of the AIRE gene?

A
  • Makes a protein in the thymus called autoimmune regulator that helps T-cells with self-recognition.
70
Q

What are the 3 possible endocrinopathies associated with PGA type 1?

A
  • Chronic mucocutaneous candidiasis (MC in infancy, as thrush that does not respond to standard tx.)
  • Acquired hypoparathyroidism (2nd MC after years of chronic fungal infections)
  • Adrenal failure (addison’s)
71
Q

What is the MC additional organ presentation in PGA type 1 for females?

A

Gonadal failure

72
Q

What additional findings are associated with PGA type 1?

A
  • Poor dentition
  • DM1
  • Thyroid disease
  • Alopecia and Vitiligo
  • Intestinal malabsorption/pernicious anemia
  • Chronic hepatitis
  • Nail dystrophy
  • Debilitating diarrhea or obstipation
73
Q

How is PGA type 1 diagnosed? Confirmed?

A
  • 2 out of 3 endocrinopathies confirmed via lab testing
  • Antibodies to anti-interferon alpha and omega
  • Genetic analysis is confirmatory.
74
Q

How is PGA type 1 treated/managed?

A
  • Ketoconazole
  • Hormone replacement
  • Increased risk of addisonian crisis when initiating treatment!!!

Adrenal insufficiency must be treated first if present.

75
Q

What causes PGA type 2?

A

HLA gene mutations on chromosome 6

76
Q

Who is PGA type 2 MC in?

A

3x more likely in females.

77
Q

What is MC etiology of PGA type 2?

A

Idiopathic, thought to be due to genetic and environmental factors.

78
Q

What characterizes PGA type 2?

A
  • Primary adrenal failure (initial)
  • Autoimmune thyroid disease
  • Type 1 DM
  • Primary hypogonadism

2 or more!!!

Add IT:
Addison’s
Insulin dependent DM
Thyroid disease

79
Q

How do we diagnose PGA type 2?

A

Testing for the individual conditions.

80
Q

How do we manage PGA type 2?

A

Screening every 1-3 yr for most common abnormalities.

81
Q

How do we treat PGA type 2?

A
  • Graves: radioactive iodine
  • Hormone replacement: thyroid, gonadal, adrenal, pancreas
  • Treat for addison’s before treating anything else

(C) CM 1A: Heme/Onc/Endo (28 decks)

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