Flashcards in Tumor Predisposition Syndromes 1 Deck (13)
Von Hippel Lindau - gene? gene function? any geno-pheno associations?
strong geno/pheno associations (thus several subtypes)
VHL: de novo rate?
VHL: most common cancer?
What is hemangioblastoma, and which condition is it associated with?
benign vascular tumor, mainly in CNS - VHL
VHL: hemangioblastomas occur in what 3 parts of body?
eyes (retinal ANGIOMA)
He-Man: "typical" male characteristics --> very visual (re sex stuff), cerebral, and "has a spine" (ie., brave)
bad VHL hemangioma mnemonic
Von Hippel sounds girly, but is a He-Man who only loves SPINning for EYEing women with big... BRAINs.
another bad VHL mnemonic
Von Hippel = He-Man Eye Spain
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
Hemangioma Endolymphatic Epidydimus Pancreas NET pheo renal cell
VHL: He-man enjoys epi pens, pho, and RC cars.
Pheo that secretes NORepinephrine - associated only with which condition?
Clear cell renal cancer - component of which conditions?
patient has Medullary Thyroid Cancer - what gene do you test them for?
MEN2 = RET gene (mostly MEN2A, some MEN2B)