Tumor Predisposition Syndromes 1 Flashcards

(13 cards)

1
Q

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

A

VHL

tumor suppressor

strong geno/pheno associations (thus several subtypes)

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2
Q

VHL: de novo rate?

A

20%

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3
Q

VHL: most common cancer?

A

Hemangioblastoma

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4
Q

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

A

benign vascular tumor, mainly in CNS - VHL

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5
Q

VHL: hemangioblastomas occur in what 3 parts of body?

A

eyes (retinal ANGIOMA)
brain (cerebellar)
spinal cord

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

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6
Q

bad VHL hemangioma mnemonic

A

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

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7
Q

another bad VHL mnemonic

A

Von Hippel = He-Man Eye Spain

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8
Q

VHL tumors

A

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

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9
Q

VHL

A

Hemangioma Endolymphatic Epidydimus Pancreas NET pheo renal cell

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

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10
Q

Pheo that secretes NORepinephrine - associated only with which condition?

A

VHL

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11
Q

Clear cell renal cancer - component of which conditions?

A

VHL, ___

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12
Q

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

A

MEN2 = RET gene (mostly MEN2A, some MEN2B)

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13
Q

C-cell hyerplasia is highly indicative of ____

A

MEN2

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