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Endo/Repro Exam 1 > 12. Multiple Endocrine Neoplasia > Flashcards

12. Multiple Endocrine Neoplasia Flashcards

1
Q

What are multiple endocrine neoplasia (MEN) syndromes?

A

3 autosomal dominant disorders where at least 2 endocrine glands simultaneously undergo neoplastic transformation and become hyperfunctional. These neoplastic tumors can be benign or malignant.

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2
Q

What are the clinical features of MEN?

A

depend on endocrine gland involved

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3
Q

Each MEN is autosomal dominant with a _____ degree of penetrance and ________ expressivity.

A
  • High degree of penetrance (if you have gene, you will express the disorder).
  • Variable expressivity (the level at which a trail appears differs from person -> person)
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4
Q

Types of MENs?

A

Type 1

Type 2A and 2B

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5
Q

What is the prevelence of MEN syndromes?

A
  • MEN 1: 2-20/100,000 people
  • MEN 2 is less common than MEN 1. Of MEN 2, 2A is the most common and 2B is the rarest.
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6
Q

How can so many various endocrine organs be affected in these syndromes?

A

MEN tumors arise from APUDS (amine precursor uptake and decarboxylation) cells, which make up our endocrine organs.

  • Convert AA –> [biogenic amines or peptides] via L-DOPA decarboxylase, which act as hormones or neurotransmitter.
  • A mutation in APUD cells can cause neoplastic tumors of related cell types in different endocrine organs.
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7
Q

What the common features of APUD cells?

A
  1. Make biogenic amines: by uptake of amine precursors and amine (DOPA) decarboxylase
  2. Make small polypeptide hormones
  3. Make membrane-bound neurosecretory granules.
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8
Q

MEN-1 are associated with what tumors?

A

1. Parathyroid adenoma (most common: 95%)

2. Pancreatic endocrine tumors

3. Puitary adenoma

4. Carcinoid tumors

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9
Q

MEN-2A are associated with what tumors?

A
  1. Medullary thyroid carcinoma (parafollicular cells)- 100%
  2. Bilateral phaeochromacytoma (on adrenal medulla)
  3. Parathyroid adenoma
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10
Q

MEN-2B are associated with what tumors?

A

1. Medullary thyroid carcinoma (100%)

2. Mucsal neuromas (100%)

3. Phaeochromacytomas

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11
Q

MEN-1 consists of hyperplasia or neoplastic transformation of the

A

THREE P’s

  1. parathyroid glands
  2. pancreatic islets
  3. pituitary.
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12
Q

MEN-2A consists of hyperplasia or neoplastic transformation of the

A
  1. thyroid parafollicular cells (medullary thyroid carcinoma [MTC]),
  2. parathyroid glands
  3. _adrenal medulla (_pheochromocytoma).
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13
Q

MEN-2B consists of hyperplasia or neoplastic transformation of the ______, _____, ____.

A
  1. thyroid parafollicular cells (MTC)
  2. adrenal medulla (pheochromocytoma)
  3. mucosal neuromas.

Not parathyroid

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14
Q

Assx condition with pancreas, pituitary adenoma in MEN 1

A
  1. ZE syndrome
  2. Pituitary adenoma that can cause acromegaly, cushing syndrome, galloctorrhea.
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15
Q

Assx condition with parathyroid neoplasm MEN 1

A
  1. Hyperparathyroidism
  2. Hypercalcemia
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16
Q

Assx conditions with MEN IIa

A

1. Hyperparathyroidism

2. Hypercalcemia

3. Medullar carcinoma

4. Increased calcitonin

5. Increased catecholamines

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17
Q

Assx conditions with MEN IIb

A
  1. Mucosal nodules
  2. Marafanoid body. habitus
  3. medullary carcinoma
  4. Increased calcitonin
  5. Increased catecholamines.
18
Q

MEN type 1 is also called what?

A

Wermer syndrome

19
Q

What. is MEN type 1, Wermers syndrome?

A

A mutation in the MEN1 gene, which encodes the menin protein, a tumor supressor. Thus, a mutation would cause unregulated division -> tumor in the 3 P’s: pancreas, parathyroid and pituiary.

20
Q

_______ tumors are also frequently reported in MEN 1 patients.

Where do they occur?

A

Carcinoid tumors

Men-> thymus

Women-> bronchial carcinoids

21
Q

How can we diagnose MEN Type 1?

A

Three means:

  • Clinical: two or more MEN assx tumors
  • Familial: patient with one MEN-1 associated tumor and a 1st degree relative with MEN 1
  • Genetic: an asymptomatic carrier of MEN-1 mutation with no biochemical manifestions.
22
Q

Discuss MEN- 1 and the parathyroid glands

A
  • In MEN-1, the most involved organ is the parathyroid gland. All 4 glands will have hyperplasia.
  • First manifestation of syndrome: hyperparathyroidism, however it may not. be detected until a clinical sx of the pituitary or pancreas is noticed.
23
Q

What is the second most common manifestation of MEN1?

A

Neoplastic tumors of pancreatic islet cells that can be benign or malignant.

24
Q

The 2nd most common manifestation of MEN-1 is pancreatic islet tumor that can be benign or malignant.

  1. What is the most frequent manifestation?
  2. What is the 2nd most common type of functional pancreatic tumor?
A
  1. Gastrinomas: 1/3 of patients with gastrinomas have MEN1.
  2. Insulinomas
25
Q

Patients with MEN-1 can have pituitary adenomas.

Describe the types and results of them

A
  1. Prolactin secreting pituitary tumors are the most common in MEN1; causing galactorrhea and amenorrhea in W and impotence in M).
  2. ACTH pituitary adeomas -> Cushing
  3. GH secreting tumors -> acromegaly
26
Q

What is gallactorrhea

amenorrhea

and impotence?

A

Gallactorrhea- milk discharge

Amenorrhea- no menstruation (period)

impotence- cant get an erection

27
Q

What is the 3rd most common manifestation of MEN-1

A

Symptoms of hyperprolactinemia: d/t. a prolactin secreting pituitary adenoma causing gallactorrhea, amenorhea and impotence.

28
Q

Patients with MEN-1 syndrome have ____________ of both functional and nonfunctional adrenal cortical hyperplasias/ adenomas.

A

increased frequency.

29
Q

Tx for MEN1

A
  1. Surgical resection of hyperplastic parathyroid tissue
  2. Surgical resection of pituitary adenoma or give meds, such as bromocriptine for prolactinomas (a DA AGO -> nihibits prolactin)
  3. Subtotal pancreatectomy (remove as many multifolcal tumors in pancreas). However, if pancreas is affected surgery will not cure.
30
Q
A
31
Q

What causes MEN type 2?

A

MEN type 2 -> d/t a mutation in RET protooncogene, which codes for receptor tyrosine kinase that is needed for cell growth. Mutation will increase growth.

32
Q

What. is the most common sign of MEN2?

A

Medullary thyroid carcinoma [MTC] of the parafollicular C cells, which secrete calcitonin.

33
Q

50% of ppl with MEN-2 develop what?

A

Pheochromacytomas

34
Q

Which is worse: MEN 2A or 2B

A

2B: Average age of death is 30

2A is 60.

35
Q

MEN-2A is also called what?

A

Sipple syndrome

36
Q

In MEN-2A, describe what happens to the parafollicular cells.

A
  • Go from a state of C-cell hyperplasia -> nodular hyperplasia -> malignant degeneration over time.
  • MTC will also express peptides that C-cells usually dont excrete: somatostatin, TRH, VIP, POMC (so hyperpigmentation) etc.
37
Q

In MEN-2A, describe the pheochromacytomas.

A

These will secrete more EPI than sporadic pheos

38
Q

What MEN disorder where we might see a itchy skin condition and what is it called?

A

MEN2A- Cutaneous lichen amyloidosis

39
Q

Describe the MTCs in MEN-2B.

A

More aggressive, forming metastatic lesions

40
Q
A

Endo/Repro Exam 1 (14 decks)

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