CANCER PREDISPOSITION SYNDROMES Flashcards
1
Q
COWDEN SYN
A
PTEN gene, clinical criteria exists: Major criteria includes macrocephaly, Lhermitte-Duclos disease (benign brain tumor) , GI hamartomas, follicular thyroid CA, breast CA, endometrial CA, mucocutaneous lesions (trichilemmomas, acral keratosis), Testing Guides: Personal hx Bannayan-Riley-Ruvalcaba syn, if not meeting clinical criteria, but personal hx of adult Lhermitte-Duclos disease, autism + macrocephaly, two or more bx proven trichilemmomas, Why do people with Cowden have such big heads? they think they are BETR (breast, endometrial, thyroid, renal)
