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NBME 21 Answers

nbme21/Block 4/Question#46

A 14-year-old girl is brought to the physician for ...

TP53

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 +2  upvote downvote
submitted by neonem(227),

Sounds like a case of Li-Fraumeni syndrome - since p53 is a tumor suppressor for a bunch of cell types, mutations in this gene (as in LFS) result in a myriad of familial tumor types.

pparalpha  Li-Fraunemi syndrome = SBLA (sarcoma, breast, leukemia, adrenal gland syndrome) and occurs because of an autosomal dominant inherited mutation of p53 APC: linked to FAP (colorectal cancer) RET: linked to papillary thyroid cancer, MEN 2A, MEN 2B RB1: retinoblastoma +3  
privatejoker  The thing that threw me off was that the only connection in her FH to the above SBLA reference was the mention of a paternal cousin with adrenocortical carcinoma. The other two mentioned had brain cancers, which seem completely outside the scope of the above mnemonic. Then again, as mentioned elsewhere, I suppose the best policy on these is just to rule out the absolute wrong answers. I swear, the NBME is lying when they tell us to choose the "best" answer on some of these. What they actually mean in practice is for us to choose the least shitty. +2  
dbg  ^ this guy cracked the code. nbme ur doomed. +1  
cienfuegos  @privatejoker: I feel the pain. Quick FYI: UW includes brain in the associated tumors. +1  
hyperfukus  we can just make her thing SBBLA and hopefully never get this wrong again +  




 +1  upvote downvote
submitted by hayayah(345),

Most human cancers are d/t a loss of function of TP53 gene.





 +1  upvote downvote
submitted by mcl(169),

Other way to get this question is by eliminating other options -- this figure is useful in listing some mutations and associated cancers.





 +1  upvote downvote
submitted by sahusema(12),

Associated neoplasms in Li-Fraumeni syndrome. Sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, leukemia