Peutz-Jeghers Syndrome, Juvenile Polyposis and HNPCC

by Carlo Raj, MD

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    00:01 Next, we're going to non-associated hereditary polyposis syndrome.

    00:05 Peutz-Jegher we have talked about being a hamartoma, autosomal dominant.

    00:09 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.

    00:24 uvenile polyposis is characterized by hamartomatous polyps in the gastrointestinal tract.

    00:31 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.

    00:40 So intussusception should mean a couple things to you.

    00:43 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.

    00:56 There is something going on underlying often times with intussusception.

    01:01 Keep that in mind. What it feels like when you touched it? A sausage, a sausage, a sausage.

    01:05 Now, make sure that we're clear about what we are talking about.

    01:12 I mentioned this a few times, up until now all your issues have been hereditary polyposis.

    01:19 Now we're getting into trans hereditary non-polyposis. A type of cancer this would then develop.

    01:25 Colorectal would be right sided. And do not forget also associated with endometrial cancer in a female.

    01:32 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.

    01:47 Strong association do not forget ovarian in a female, so gyne cancers and by uterine we mean endometrial.

    01:56 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.

    02:07 Three family members. Screening of family member age of 35 or 5 years earlier than the youngest age of diagnosis.

    02:16 Female screening for endometrial cancers is important if you're suspecting a patient with HNPCC.

    About the Lecture

    The lecture Peutz-Jeghers Syndrome, Juvenile Polyposis and HNPCC by Carlo Raj, MD is from the course Small and Large Intestine Diseases: Basic Principles with Carlo Raj. It contains the following chapters:

    • Peutz-Jegher's Syndrome
    • Juvenile Polyposis
    • HNPCC

    Included Quiz Questions

    1. A targetoid or a sausage-shaped lesion
    2. Snowstorm appearance
    3. Cystic space with rimming of the lesion
    4. Rat tail appearance
    5. Bird's beak sign
    1. CA 125
    2. CA 19-9
    3. Beta HCG
    4. Prostate-specific antigen
    5. Alpha-fetoprotein
    1. Hamartomatous polyp
    2. Inflammatory polyp
    3. Hyperplastic polyp
    4. Serrated adenomatous polyp
    5. Traditional serrated adenomatous polyp
    1. Endometrial cancer
    2. Breast cancer
    3. Thyroid cancer
    4. Prostate cancer
    5. Lung cancer
    1. 0
    2. More than 100
    3. 1–5 sessile polyps
    4. 1–5 pedunculated polyps
    5. Many pseudopolyps
    1. Microsatellite instability
    2. Gain of function of FAP gene
    3. Loss of function of FAP gene
    4. "Two-hits hypothesis" (where genes undergo mutation)
    5. Trisomy of chromosomes
    1. Breast cancer
    2. Gastric cancer
    3. Endometrial cancer
    4. Ovarian cancer
    5. Right-sided colorectal cancer
    1. 25 years
    2. 35 years
    3. 65 years
    4. 45 years
    5. 55 years
    1. Autosomal dominant
    2. Autosomal recessive
    3. X-linked dominant
    4. X-linked recessive
    5. Y-linked dominant

    Author of lecture Peutz-Jeghers Syndrome, Juvenile Polyposis and HNPCC

     Carlo Raj, MD

    Carlo Raj, MD

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