Multiple Endocrine neoplasia Flashcards
What is the inheritance pattern of MEN-1 (Wermer syndrome)
autosomal dominant
What are the three P’s (presentation) of Men-1
- Parathyroid -Hyperparathyroidism (95% +)
- Pancreatic tumors (about 50%)
- Pituitary tumors (25%)
*all benigns tumors, but secrete problematic substances
What is the usual presentation of MEN-1
Hypercalcemia (from hyperPTH)
-kidney stones, osteoporosis, abdominal pain, dementia (stones, bones, moans, groans)
-surgery is indicated
What are the most common pancreatic tumors
- Gastrinoma (recurrent GERD, gastritis) - (most common)
- Zollinger-Ellison Syndrome - Insulinoma (second most common)
What are most pituitary tumors in MEN?
prolactinomas
What are S/Sx of pituitary/prolactinomas in
- men
- women
- both
- decreased libido
- Galactorrhea, amenorrhea
- Growth Hormone (Acromegaly) and Cushings
What syndrome do Carcinoid tumors appear in?
MEN-1
What substances are secreted by Carcinoid tumors? what are associated characteristics?
Cortisol
5-HIAA
- FACIAL ANGIOFIBROMAs
- malignant/aggressive - can occur anywhere from thymus to bronchi to stomach
What is the difference between MEN-1 and MEN-2
MEN-1 has PITUITARY involvement
What is unique about MEN-2B (MEN-3)
Mucosal neuromas
Marfanoid body habitus
Gangliomas of bowel
(also has MTC, Pheo)
What is unique about MEN-2A
Parathyroid hyperplasia
What is shared between MEN-2A and MEN-2B?
Medullary thyroid carcinoma
Pheochromocytoma
What does the MEN-1 gene code for? where is it located
MENIN (tumor suppressor)
11q13
What are 3 screens for MEN-1 syndrome?
- check MENIN gene
- HyperPTH
- Zollinger-Ellison syndrome
Where does Medullary Thyroid Cancer originate?
Calcitonin producing cells of thyroid
What is the screen for MEN-2? what should you do if found?
RET (protooncogene) screen
if positive: thyroidectomy asasp
What is the gene defect in MEN-4 (MENX)
Cyclin-dependent kinase inhibitor (CK1) (CDNKIB)
What are 3 manifestations of MEN-4 (MENX)
Tumors:
- Parathyroid
- Pituitary
- Reproductive (ovarian/testes)
What disease is caused by HPT-JT? (what gene product)
Parafibromin
Hyperparathyroid-Jaw Tumor
- parathyroid tumors (rare case that they are malignant!)
- fibro-osseous jaw tumors
What is the inheritance pattern of Carney complex? what is the mutation
Autosomal dominant
mutation of PKA regulatory subunit 1a (PPKAR1A)
What is the manifestation of Carney complex? (3)
- Cardiac, Endocrine, Skin, Neural MYXOMAS
- Spotty pigmentation of skin
- Adrenal ( Cortisol), Follicular Thyroid Cancer, Pituitary ( Acromegaly)
What is the genetic cause of McCune Albright Syndrome? cellular fx?
mutation of GNAS protein
increase cAMP in cells
What is the presentation of McCune Albright Syndrome?
Hallmark = fibrous dysplasia, cafe au lait spots (precocious puberty + multiple endocrine tumors)**
Hyperthyroidism
Pituitary tumors
Adrenal tumors
Vit D independent rickets
What are S/Sx of NF1 (Von Reckinghausen Disease)
Café-au-lait spots
neurofibroma
axillary and inguinal freckling
hamartomas of the iris.
multiple endocrine tumors
