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Endocrine 2 > Multiple Endocrine neoplasia > Flashcards

Multiple Endocrine neoplasia Flashcards

1
Q

What is the inheritance pattern of MEN-1 (Wermer syndrome)

A

autosomal dominant

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2
Q

What are the three P’s (presentation) of Men-1

A
  1. Parathyroid -Hyperparathyroidism (95% +)
  2. Pancreatic tumors (about 50%)
  3. Pituitary tumors (25%)

*all benigns tumors, but secrete problematic substances

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3
Q

What is the usual presentation of MEN-1

A

Hypercalcemia (from hyperPTH)
-kidney stones, osteoporosis, abdominal pain, dementia (stones, bones, moans, groans)

-surgery is indicated

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4
Q

What are the most common pancreatic tumors

A
  1. Gastrinoma (recurrent GERD, gastritis) - (most common)
    - Zollinger-Ellison Syndrome
  2. Insulinoma (second most common)
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5
Q

What are most pituitary tumors in MEN?

A

prolactinomas

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6
Q

What are S/Sx of pituitary/prolactinomas in

  1. men
  2. women
  3. both
A
  1. decreased libido
  2. Galactorrhea, amenorrhea
  3. Growth Hormone (Acromegaly) and Cushings
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7
Q

What syndrome do Carcinoid tumors appear in?

A

MEN-1

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8
Q

What substances are secreted by Carcinoid tumors? what are associated characteristics?

A

Cortisol
5-HIAA

  1. FACIAL ANGIOFIBROMAs
  2. malignant/aggressive - can occur anywhere from thymus to bronchi to stomach
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9
Q

What is the difference between MEN-1 and MEN-2

A

MEN-1 has PITUITARY involvement

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10
Q

What is unique about MEN-2B (MEN-3)

A

Mucosal neuromas
Marfanoid body habitus
Gangliomas of bowel

(also has MTC, Pheo)

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11
Q

What is unique about MEN-2A

A

Parathyroid hyperplasia

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12
Q

What is shared between MEN-2A and MEN-2B?

A

Medullary thyroid carcinoma

Pheochromocytoma

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13
Q

What does the MEN-1 gene code for? where is it located

A

MENIN (tumor suppressor)

11q13

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14
Q

What are 3 screens for MEN-1 syndrome?

A
  1. check MENIN gene
  2. HyperPTH
  3. Zollinger-Ellison syndrome
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15
Q

Where does Medullary Thyroid Cancer originate?

A

Calcitonin producing cells of thyroid

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16
Q

What is the screen for MEN-2? what should you do if found?

A

RET (protooncogene) screen

if positive: thyroidectomy asasp

17
Q

What is the gene defect in MEN-4 (MENX)

A

Cyclin-dependent kinase inhibitor (CK1) (CDNKIB)

18
Q

What are 3 manifestations of MEN-4 (MENX)

A

Tumors:

  1. Parathyroid
  2. Pituitary
  3. Reproductive (ovarian/testes)
19
Q

What disease is caused by HPT-JT? (what gene product)

A

Parafibromin

Hyperparathyroid-Jaw Tumor

  • parathyroid tumors (rare case that they are malignant!)
  • fibro-osseous jaw tumors
20
Q

What is the inheritance pattern of Carney complex? what is the mutation

A

Autosomal dominant

mutation of PKA regulatory subunit 1a (PPKAR1A)

21
Q

What is the manifestation of Carney complex? (3)

A
  1. Cardiac, Endocrine, Skin, Neural MYXOMAS
  2. Spotty pigmentation of skin
  3. Adrenal ( Cortisol), Follicular Thyroid Cancer, Pituitary ( Acromegaly)
22
Q

What is the genetic cause of McCune Albright Syndrome? cellular fx?

A

mutation of GNAS protein

increase cAMP in cells

23
Q

What is the presentation of McCune Albright Syndrome?

A

Hallmark = fibrous dysplasia, cafe au lait spots (precocious puberty + multiple endocrine tumors)**

Hyperthyroidism
Pituitary tumors
Adrenal tumors
Vit D independent rickets

24
Q

What are S/Sx of NF1 (Von Reckinghausen Disease)

A

Café-au-lait spots
neurofibroma
axillary and inguinal freckling
hamartomas of the iris.

multiple endocrine tumors

25
Q

What is the gene defect in NF1?

A

defect in the neurofibroma gene- a tumor suppressor gene of the Ras-dependant signaling activity

26
Q

What is the defect on Von Hippel Lindau Disease? What is the inheritance pattern?

A

Defect in VHL protein (tumor regulator)

Autosomal Dominant

27
Q

What are S/Sx of VHL?

A

Retinal and cerebellar hemangioblastoma
RENAL CELL CA!!!
islet cell tumors, pheo = most common tumors seen

28
Q

What is Cowden’s syndrome?

A

Multiple hamartomatous lesions (fucked up skin!!)
-skin, mucous membranes)
Thyroid abnormalities (MULTINODULAR GOITERS, benign adenomas)

Endocrine 2 (17 decks)

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