Next, we're going to non-associated hereditary polyposis syndrome.
Peutz-Jegher we have talked about being a hamartoma, autosomal dominant.
It's a hamartoma however is associated with many cancers
and associated with hyper-pigmentation of mouth, hands and feet?
big time makes you know about Peutz-Jegher.
Juvenile polyposis. These are hyperplastic polyps in the colon, extremely common.
And any time that you have a polyp or diverticulum,
you are always worried about distant folding upon each other
resulting in an intussusception type of presentation.
So intussusception should mean a couple things to you.
It means that there is something there that's allowing for the folds of the intestine
to come into each other, right? So maybe it is Meckel?s diverticulum, maybe it is some type of polyp.
There is something going on underlying often times with intussusception.
Keep that in mind. What it feels like when you touched it? A sausage, a sausage, a sausage.
Now, make sure that we're clear about what we are talking about.
I mentioned this a few times, up until now all your issues have been hereditary polyposis.
Now we're getting into trans hereditary non-polyposis. A type of cancer this would then develop.
Colorectal would be right sided. And do not forget also associated with endometrial cancer in a female.
Autosomal dominant disorder, a defect in repaired DNA base mismatch,
you call this microsatellite instability, and up to 3% maybe associated with colorectal cancer,
right side, right side, right side more so.
Strong association do not forget ovarian in a female,
so gyne cancers and by uterine we mean endometrial.
Suspected graded in three family members have colorectal cancers and that is, rule of thumb,
in terms of proper genetic counseling in generations that you are paying attention to.
Three family members. Screening of family member age of 25 or 5 years earlier
than the youngest age of diagnosis.
Female screening for endometrial cancers is important
if you're suspecting a patient with HNPCC.