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Flashcards in Tumor Predisposition Syndromes 1 Deck (13)
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1

Von Hippel Lindau - gene? gene function? any geno-pheno associations?

VHL

tumor suppressor

strong geno/pheno associations (thus several subtypes)

2

VHL: de novo rate?

20%

3

VHL: most common cancer?

Hemangioblastoma

4

What is hemangioblastoma, and which condition is it associated with?

benign vascular tumor, mainly in CNS - VHL

5

VHL: hemangioblastomas occur in what 3 parts of body?

eyes (retinal ANGIOMA)
brain (cerebellar)
spinal cord

He-Man: "typical" male characteristics --> very visual (re sex stuff), cerebral, and "has a spine" (ie., brave)

6

bad VHL hemangioma mnemonic

Von Hippel sounds girly, but is a He-Man who only loves SPINning for EYEing women with big... BRAINs.

7

another bad VHL mnemonic

Von Hippel = He-Man Eye Spain

8

VHL tumors

hemangioma

endolymphatic sac [hearing loss, tinnitus, balance, 10%]

epidydimal cysts [in men, and in cysts of broad ligament in women; broad ligament = wings of uterus]

pancreatic cysts, pancreatic neuroendocrine tumors (PNET)

pheochromocytoma [norepi predominant -- adrenaline] ;

renal cell carcinoma (RCC), renal cysts

9

VHL

Hemangioma Endolymphatic Epidydimus Pancreas NET pheo renal cell

VHL: He-man enjoys epi pens, pho, and RC cars.

10

Pheo that secretes NORepinephrine - associated only with which condition?

VHL

11

Clear cell renal cancer - component of which conditions?

VHL, ___

12

patient has Medullary Thyroid Cancer - what gene do you test them for?

MEN2 = RET gene (mostly MEN2A, some MEN2B)

13

C-cell hyerplasia is highly indicative of ____

MEN2