What is Polyposis?

Polyps in the gastrointestinal tract are abnormal growths in the colon, small intestine, stomach, or esophagus that are often benign. However, some types of polyps may be able to turn into a cancer if not removed. While otherwise healthy people may develop a few polyps as they age, the term "polyposis" refers to a group of syndromes that cause increased numbers of polyps throughout the gastrointestinal tract.

Different gastrointestinal polyposis syndromes are grouped by the main (or most common) type of polyp that forms in that individual. There are multiple types of polyps that can be identified, which is typically done by a doctor looking at the polyp's appearance under a microscope after the polyp is removed. An individual with polyposis can develop many of the same type of polyp or different types of polyps throughout his or her life.

Syndromes with "adenomatous"-type polyps:

  • FAP–Familial Adenomatous Polyposis
  • MAP–MUTYH-Associated Polyposis

Syndromes with "hamartomatous"-type polyps:

  • PJS–Peutz-Jeghers Syndrome
  • JPS–Juvenile Polyposis Syndrome
  • PHTS–PTEN Hamartoma Tumor Syndrome (Cowden Syndrome)

Syndromes with "serrated"-type polyps

  • SPS–Serrated Polyposis Syndrome

Types of polyposis

What causes polyposis?

Genes are instructions for how the body grows and functions. Our genes are inherited (passed down) from our parents. Some genes help determine traits like hair color or eye color. Other genes may increase or decrease the chance of disease, such as developing polyps.

Some polyposis syndromes are caused by having a mutation (harmful genetic change) in a gene that is important for preventing polyp development. However, not all polyposis has a genetic cause that we know of. There are many other factors that may also promote polyp growth such as certain bacteria that lives in your colon, behaviors such as smoking, and potentially environmental exposures.

Polyposis management

Since some gastrointestinal polyps may develop into cancer (including colon, gastric, or duodenal/small intestinal cancer), it is very important for individuals with a polyposis syndrome to receive care from a physician experienced in managing polyposis. A key way to reduce cancer risk in individuals with polyposis is to remove the polyps, either through use of endoscopic procedures (colonoscopy or upper endoscopy [EGD]), or through surgery.

With Penn Medicine's Polyposis Management Program, you will be followed closely by a physician with expertise in gastrointestinal polyposis to review your personal medical history, genetic testing results, and family medical history in order to provide an individualized, comprehensive polyposis management plan. At your appointment, recommendations for cancer screening and/or risk-reduction options for your polyposis syndrome will be discussed. Other important topics, including family planning, genetic testing of potentially at-risk relatives (if applicable), and other options to reduce cancer risk will be reviewed.

When should genetic testing for polyposis be performed?

There are many examples of situations when genetic testing is recommended for individuals with multiple polyps. Some examples include:

  • Multiple (10 or more) adenomatous polyps of the colon
  • Hamartomatous gastrointestinal polyps
  • Multiple serrated polyps of the colon

If you need to be evaluated to potentially undergo genetic testing for a polyposis syndrome, this can be performed through our Gastrointestinal Cancer Risk Evaluation Program.

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